Amyloidosis: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.Amyloidosis, Familial: Diseases in which there is a familial pattern of AMYLOIDOSIS.Amyloid: A fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of AMYLOID PLAQUES are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.Serum Amyloid A Protein: An ACUTE PHASE REACTION protein present in low concentrations in normal sera, but found at higher concentrations in sera of older persons and in patients with AMYLOIDOSIS. It is the circulating precusor of amyloid A protein, which is found deposited in AA type AMYLOID FIBRILS.Prealbumin: A tetrameric protein, molecular weight between 50,000 and 70,000, consisting of 4 equal chains, and migrating on electrophoresis in 3 fractions more mobile than serum albumin. Its concentration ranges from 7 to 33 per cent in the serum, but levels decrease in liver disease.Immunoglobulin Light Chains: Polypeptide chains, consisting of 211 to 217 amino acid residues and having a molecular weight of approximately 22 kDa. There are two major types of light chains, kappa and lambda. Two Ig light chains and two Ig heavy chains (IMMUNOGLOBULIN HEAVY CHAINS) make one immunoglobulin molecule.Familial Mediterranean Fever: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.Amyloid Neuropathies: Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)Congo Red: An acid dye used in testing for hydrochloric acid in gastric contents. It is also used histologically to test for AMYLOIDOSIS.Amyloid Neuropathies, Familial: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.Cardiomyopathies: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).beta 2-Microglobulin: An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.Serum Amyloid P-Component: Amyloid P component is a small, non-fibrillar glycoprotein found in normal serum and in all amyloid deposits. It has a pentagonal (pentaxin) structure. It is an acute phase protein, modulates immunologic responses, inhibits ELASTASE, and has been suggested as an indicator of LIVER DISEASE.Nephrotic Syndrome: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.Paraproteinemias: A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin.Tracheal DiseasesKidney Diseases: Pathological processes of the KIDNEY or its component tissues.Macroglossia: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)Amyloidogenic Proteins: Proteins that form the core of amyloid fibrils. For example, the core of amyloid A is formed from amyloid A protein, also known as serum amyloid A protein or SAA protein.Melphalan: An alkylating nitrogen mustard that is used as an antineoplastic in the form of the levo isomer - MELPHALAN, the racemic mixture - MERPHALAN, and the dextro isomer - MEDPHALAN; toxic to bone marrow, but little vesicant action; potential carcinogen.Bence Jones Protein: An abnormal protein with unusual thermosolubility characteristics that is found in the urine of patients with MULTIPLE MYELOMA.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.Acinonyx: A genus of long-legged, swift-moving felines (FELIDAE) from Africa (and formerly Asia) about the size of a small leopard.Immunoglobulin lambda-Chains: One of the types of light chain subunits of the immunoglobulins with a molecular weight of approximately 22 kDa.Gelsolin: A 90-kDa protein produced by macrophages that severs ACTIN filaments and forms a cap on the newly exposed filament end. Gelsolin is activated by CALCIUM ions and participates in the assembly and disassembly of actin, thereby increasing the motility of some CELLS.Factor X Deficiency: Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption.Skin Diseases, Genetic: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.Multiple Myeloma: A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.

Impaired lysosomal processing of beta2-microglobulin by infiltrating macrophages in dialysis amyloidosis. (1/1787)

BACKGROUND: Macrophages may participate in amyloid fibril formation by processing the protein precursor. Although this theory seems to apply for amyloidosis, in which proteolytic cleavage is a prerequisite for amyloid fibril formation, it has not been demonstrated for beta2-microglobulin (beta2m) amyloidosis. We aimed to establish the role played by macrophages in beta2m amyloidosis. METHODS: We used a double immunogold electron microscopy technique, including mouse antihuman CD68, rabbit antihuman beta2m, amyloid P component, and lysosome-associated membrane protein (LAMP-1) antibodies. Differential density labeling studies of beta2m and amyloid P component were performed extra- and intracellularly to assess protein processing by macrophages. RESULTS: The cells surrounding amyloid fibrils were found to be mostly CD68 positive, suggesting that they were of monocyte-macrophage lineage. Intracellular accumulation of amyloid fibrils was also observed; these fibrils were constantly surrounded by LAMP-1-linked gold particles, demonstrating that intracellular beta2m was almost exclusively lysosomal. The rough-surface endoplasmic reticulum was not labeled by beta2m antibody, suggesting that there was no active synthesis of beta2m by the cells. As a marker of endocytosis, protruded cytoplasmic processes in close relation with the intracellular accumulations of beta2m amyloid fibrils were observed. No difference in density labeling (extracellular vs. intracellular) was observed for beta2m, whereas intracellular P component labeling was significantly decreased. CONCLUSIONS: All of these data are strongly suggestive of phagocytosis and not synthesis of amyloid fibrils by macrophages. Further, they demonstrate an impaired lysosomal processing specific for beta2m, as other compounds of the amyloid fibrils (P component) are significantly cleared.  (+info)

The heparin/heparan sulfate-binding site on apo-serum amyloid A. Implications for the therapeutic intervention of amyloidosis. (2/1787)

Serum amyloid A isoforms, apoSAA1 and apoSAA2, are apolipoproteins of unknown function that become major components of high density lipoprotein (HDL) during the acute phase of an inflammatory response. ApoSAA is also the precursor of inflammation-associated amyloid, and there is strong evidence that the formation of inflammation-associated and other types of amyloid is promoted by heparan sulfate (HS). Data presented herein demonstrate that both mouse and human apoSAA contain binding sites that are specific for heparin and HS, with no binding for the other major glycosaminoglycans detected. Cyanogen bromide-generated peptides of mouse apoSAA1 and apoSAA2 were screened for heparin binding activity. Two peptides, an apoSAA1-derived 80-mer (residues 24-103) and a smaller carboxyl-terminal 27-mer peptide of apoSAA2 (residues 77-103), were retained by a heparin column. A synthetic peptide corresponding to the CNBr-generated 27-mer also bound heparin, and by substituting or deleting one or more of its six basic residues (Arg-83, His-84, Arg-86, Lys-89, Arg-95, and Lys-102), their relative importance for heparin and HS binding was determined. The Lys-102 residue appeared to be required only for HS binding. The residues Arg-86, Lys-89, Arg-95, and Lys-102 are phylogenetically conserved suggesting that the heparin/HS binding activity may be an important aspect of the function of apoSAA. HS linked by its carboxyl groups to an Affi-Gel column or treated with carbodiimide to block its carboxyl groups lost the ability to bind apoSAA. HDL-apoSAA did not bind to heparin; however, it did bind to HS, an interaction to which apoA-I contributed. Results from binding experiments with Congo Red-Sepharose 4B columns support the conclusions of a recent structural study which found that heparin binding domains have a common spatial distance of about 20 A between their two outer basic residues. Our present work provides direct evidence that apoSAA can associate with HS (and heparin) and that the occupation of its binding site by HS, and HS analogs, likely caused the previously reported increase in amyloidogenic conformation (beta-sheet) of apoSAA2 (McCubbin, W. D., Kay, C. M., Narindrasorasak, S., and Kisilevsky, R. (1988) Biochem. J. 256, 775-783) and their amyloid-suppressing effects in vivo (Kisilevsky, R., Lemieux, L. J., Fraser, P. E., Kong, X., Hultin, P. G., and Szarek, W. A. (1995) Nat. Med. 1, 143-147), respectively.  (+info)

Colchicine inhibition of the first phase of amyloid synthesis in experimental animals. (3/1787)

Colchicine was found to inhibit the first phase of casein-induced synthesis of murine amyloid. When mice were treated with colchicine during the first 7 days of an amyloid induction regimen or when colchicine was given to the donor mice in a transfer model, the amyloidogenic stimulus of casein was blocked completely. Amyloid synthesis was however, not interrupted by the administration of colchicine during the last 7 days of the casein regimen nor by colchicine treatment of recipient mice in a transfer model.  (+info)

Cells with clonal light chains are present in peripheral blood at diagnosis and in apheretic stem cell harvests of primary amyloidosis. (4/1787)

In primary systemic amyloidosis, small numbers of bone marrow plasma cells secrete monoclonal light chains that form extracellular fibrils (amyloid) in various organs. Evidence limited to a few cases suggests that rare clonal elements can also be found in the peripheral blood (PB), and this may be relevant in PB stem cell autotransplantation. Since up to 40% of amyloid clones do not synthesize heavy chains, in order to detect tumor cells with high specificity and sensitivity we developed a seminested allele-specific oligonucleotide polymerase chain reaction for tumor light chains. Clone-related sequences were detected in DNA and/or cDNA from the PB cells of eight of 10 patients at diagnosis and from apheretic collections of three of four cases undergoing PB progenitor autotransplantation. Since there are experimental data suggesting that circulating tumor cells may be involved in the growth of the amyloidogenic clone and may be chemoresistant, these findings are relevant to the use of leukapheresis purging strategies for PB progenitor autotransplantation in amyloidosis.  (+info)

The degrees of plasma cell clonality and marrow infiltration adversely influence the prognosis of AL amyloidosis patients. (5/1787)

BACKGROUND AND OBJECTIVE: Primary amyloidosis is a lethal form of plasma cell (PC) dyscrasia characterized by deposits of monoclonal immunoglobulin light chains that cause organ dysfunction. In contrast to multiple myeloma, the amyloid clone is typically indolent and of small size, and marrow PC clonality is not always apparent. This is generally investigated by analyzing the light chain isotype ratio in bone marrow PC. We investigated whether the degree of PC infiltration (PC%) and clonality (PC isotype ratio) affected survival in 56 consecutive patients with primary amyloidosis. DESIGN AND METHODS: PC% was determined by morphologic examination. Immunofluorescence microscopy was used to determine the PC light chain isotype ratio. Statistical analysis was carried out using Cox regression models. RESULTS: The degrees of PC clonality and infiltration were inversely correlated with survival (PC isotype ratio, p = 0.001; PC%, p = 0.008). The two variables were weakly correlated (p = 0.02; r = 0.3). Bone marrow PC isotype ratio demonstrated a powerful independent prognostic value at multivariate analysis when analyzed together with congestive heart failure (the major known negative prognostic factor) and PC%. k/l ratio cut-off values of 0.2 (l patients, p = 0.022) and 16 (k patients, p = 0.03) discriminated two groups with a similar number of patients and significantly different survivals. INTERPRETATION AND CONCLUSIONS: PC clonality and marrow infiltration are important parameters that influence prognosis, presumably because they reflect the amount of pathogenic light chain synthesis.  (+info)

Organ-specific (localized) synthesis of Ig light chain amyloid. (6/1787)

Ig amyloidosis is usually a systemic disease with multisystem involvement. However, in a significant number of cases amyloid deposition is limited to one specific organ. It has not been determined if the Ig light chain (LC) amyloid precursor protein in localized amyloidosis is synthesized by circulating plasma cells with targeting of the amyloid fibril-forming process to one specific organ, or whether the synthesis of Ig LC and fibril formation occurs entirely as a localized process. In the present study local synthesis of an amyloid fibril precursor LC was investigated. Amyloid fibrils were isolated from a ureter that was obstructed by extensive infiltration of the wall with amyloid. Amino acid sequence analysis of the isolated fibril subunit protein proved it to be derived from a lambdaII Ig LC. Plasma cells within the lesion stained positively with labeled anti-lambda Ab and by in situ hybridization using an oligonucleotide probe specific for lambda-LC mRNA. RT-PCR of mRNA extracted from the tumor and direct DNA sequencing gave the nucleotide sequence coding specifically for the lambdaII amyloid subunit protein, thus confirming local synthesis of the LC protein.  (+info)

Histological characteristics of sternoclavicular beta 2-microglobulin amyloidosis and clues for its histogenesis. (7/1787)

BACKGROUND: The pathogenesis of beta 2-microglobulin amyloidosis (A beta 2m) has yet to be fully elucidated. METHODS: We describe the distribution and extent of A beta 2m deposition and macrophagic infiltration in cartilage, capsule, and synovium of sternoclavicular joints obtained postmortem from 54 patients after 3 to 244 (median 46) months of dialysis. Twenty-four nonuremic patients served as a control group. The diagnosis of amyloidosis (A) rested on a positive Congo Red staining (typical birefringence) and that of A beta 2m on positive immunostaining of the A deposits with a monoclonal anti-beta 2m antibody. The size of A deposits was measured. RESULTS: A beta 2m was detected in 32 (59%), and non-beta 2m amyloid (Anon beta 2m) was detected in an additional 8 (15%) of the 54 dialyzed patients. A beta 2m deposits were present in the cartilage of all A beta 2m (+) patients (100%). They were localized solely in the cartilage in 27% of the cases, either as a thin patchy layer or as a continuous thicker layer (identified as stage I). A beta 2m was additionally present in the capsule and/or synovium without macrophages in 27% of the cases (identified as stage II). The correlation between the size of cartilaginous deposits and dialysis duration (P = 0.02) as well as with the prevalence (P = 0.03) and size of capsular deposits (P = 0.02) suggests that stage II is a later stage of A deposition. Clusters of macrophages were detected around capsular and synovial amyloid deposits in 46% of the cases (identified as stage III). The longer duration of dialysis in those with stage III as well as the relationship between the size of the A beta 2m deposits and the prevalence of macrophagic infiltration suggests that stage III is the last stage of A beta 2m deposition. Marginal bone erosions were observed in 9 out of 12 patients with stage III deposits. Their size was correlated with that of cartilaginous deposits (P = 0.01). Among the 24 control patients, Anon beta 2m was detected in 12 patients (cartilage 100%, capsule 8%, synovium 30%). CONCLUSIONS: The earliest stage of A beta 2m deposition occurs in the cartilage. A beta 2m subsequently extends to capsule and synovium. These two first stages do not require macrophage infiltration. Macrophages are eventually recruited around larger synovial or capsular deposits in the final stage. Marginal bone erosions develop in this late stage.  (+info)

Morphological, histochemical, immunohistochemical, and ultrastructural characterization of tumors and dysplastic and non-neoplastic lesions arising in BK virus/tat transgenic mice. (8/1787)

To study the role in AIDS pathogenesis of the human immunodeficiency virus type 1 (HIV-1) Tat protein, a transactivator of viral and cellular genes, we generated transgenic mice with a recombinant DNA containing BK virus (BKV) early region and the HIV-1 tat gene, directed by its own promoter-enhancer. DNA hybridization revealed that the transgene is stably maintained in all organs of transgenic mice as a tandem insertion in a number of copies ranging from 5 to 20 per cell. In addition, tat and BKV RNA were expressed in all tissues. Transgenic mice developed three types of lesions: 1) tumors, 2) hyperplastic and dysplastic lesions, and 3) non-neoplastic lesions. Tumors of different histotypes, such as lymphomas, adenocarcinomas of skin glands, leiomyosarcomas, skin squamous cell carcinomas, hepatomas, hepatocarcinomas, and cavernous liver hemangiomas, developed in 29% of transgenic animals. The majority of tumors were malignant, invasive, and producing metastases. Conversely, tumors of only two histotypes (lymphomas and adenocarcinomas of skin glands) appeared in control mice. Hyperplastic and dysplastic lesions were more frequent in transgenic than in control mice and involved the skin or its adnexes, the liver and the rectum, indicating multiple targets for the activity of the transgene. Pyelonephritis, frequently complicated with hydronephrosis, inflammatory eye lesions, and amyloid depositions represented the most frequent non-neoplastic lesions detected in transgenic mice. Many of the pathological findings observed in this animal model are comparable to similar lesions appearing in AIDS patients, suggesting a relevant role for Tat in the pathogenesis of such lesions during the course of AIDS.  (+info)

*Serum amyloid A1

Inflammatory amyloidosis results from chronic inflammation with increased production of SAA1, which is a major precursor of ... Lu J, Yu Y, Zhu I, Cheng Y, Sun PD (Apr 2014). "Structural mechanism of serum amyloid A-mediated inflammatory amyloidosis". ... the deposit of which leads to inflammatory amyloidosis. The gene coding for human SAA1 is one of the 4 SAA genes mapped to a ... amyloid fibril protein AA from a patient with Waldenström's macroglobulinaemia and amyloidosis". Scandinavian Journal of ...

*AA amyloidosis

... is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in ... UK NHS National Amyloidosis Centre Patient Information Site: information on AA amyloidosis (www.AmyloidAware.com ) Booklet and ... "AA (Inflammatory) Amyloidosis". Medscape Reference. "AA Amyloidosis". BU Amyloid Treatment & Research Program. Daisuke Katagiri ... In AA amyloidosis, the deposited protein is serum amyloid A protein (SAA), an acute-phase protein which is normally soluble and ...

*Familial renal amyloidosis

... (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a form of amyloidosis ... March 2005). "Underdiagnosed amyloidosis: amyloidosis of lysozyme variant". Am. J. Med. 118 (3): 321-2. doi:10.1016/j.amjmed. ... January 2006). "Lysozyme amyloidosis: report of 4 cases and a review of the literature". Medicine (Baltimore). 85 (1): 66-73. ... August 1992). "Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis". Proc. Natl. Acad. Sci. U.S.A. 89 (16 ...

*Wild-type transthyretin amyloid

Transthyretin-related hereditary amyloidosis Amyloidosis The Amyloidosis Center at Boston University Mayo Clinic Definition A ... The transthyretin amyloidoses: advances in therapy. Dubrey S, Ackermann E, Gillmore J. Sekijima Y. Recent progress in the ... Updates in Cardiac Amyloidosis: A Review. Journal of the American Heart Association. 2012; 1: e000364 Sekijima Y. Postgraduate ... People affected by WTT amyloidosis are likely to have required a pacemaker before diagnosis and have a high incidence of a ...

*Familial Mediterranean fever

Development of amyloidosis is delayed with colchicine treatment. Interferon is being studied as a therapeutic modality. Some ... AA-amyloidosis with kidney failure is a complication and may develop without overt crises. AA amyloid protein is produced in ...

*Melphalan

It is used to treat multiple myeloma, ovarian cancer, AL amyloidosis, and occasionally malignant melanoma. The agent was first ...

*Nephrotic syndrome

Other causes are amyloidosis and certain other allergic and infectious diseases. Nephrotic syndrome can be associated with a ... Amyloidosis: the deposit of amyloid substances (proteins with anomalous structures) in the glomeruli modifying their shape and ...

*SAA2

Liepnieks JJ, Kluve-Beckerman B, Benson MD (1995). "Characterization of amyloid A protein in human secondary amyloidosis: the ...

*Transthyretin

Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B (1993). "Cardiac amyloidosis: a review and report ... Certain mutations, however, cause CNS amyloidosis, and due to their production by the choroid plexus, the CNS TTR amyloid ... TTR misfolding and aggregation is known to be associated with the amyloid diseases senile systemic amyloidosis (SSA), familial ... Reixach N, Deechongkit S, Jiang X, Kelly JW, Buxbaum JN (March 2004). "Tissue damage in the amyloidoses: Transthyretin monomers ...

*Gelsolin

Cortactin Villin Supervillin Finnish type amyloidosis GRCm38: Ensembl release 89: ENSMUSG00000026879 - Ensembl, May 2017 "Human ...

*Amyloidosis

... , blood vessels, H&E Amyloidosis, lymph node, H&E Amyloidosis, lymph node, polarizer Cardiac amyloidosis. H&E stain ... People affected by amyloidosis are supported by multiple organizations, including the Amyloidosis Foundation, Amyloidosis ... Descriptive terms such as primary amyloidosis, secondary amyloidosis, and others (e.g., senile amyloidosis), which are not ... AL amyloidosis occurs in about 3-13 per million people per year and AA amyloidosis in about 2 per million people per year. The ...

*Cardiac amyloidosis

Types of cardiac amyloidosis include cardiac manifestations of AL amyloidosis and amyloidosis, cardiac manifestations of ... Cardiac amyloidosis is any of several forms of amyloidosis (the accumulation of inappropriately folded proteins) in or ... transthyretin-related hereditary amyloidosis, and isolated atrial amyloidosis, a form of amyloidosis affecting the atria of the ... The most common form of amyloidoses, AA amyloidosis, usually spares the heart. ...

*Heredofamilial amyloidosis

Amyloidosis List of cutaneous conditions James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: ... Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid ...

*LECT2 amyloidosis

... can be distinguished from AL amyloidosis, the most common form of amyloidosis (~85% of total cases), by ... the first and second most common forms the disorder were AL amyloidosis and AA amyloidosis, respectively. Amyloidosis is a ... LECT2 Amyloidosis is a form of amyloidosis caused by the LECT2 protein. It was found to be the third most common (~3% of total ... Thus, LECT2 amyloidosis, while classified as a form of systemic amyloidosis, almost exclusively manifests clinically as renal ...

*AL amyloidosis

Amyloid light-chain (AL) amyloidosis, primary systemic amyloidosis (PSA) or just primary amyloidosis is the most common form of ... AL Amyloidosis List of amyloidosis patient support groups List of major amyloidosis medical treatment research centers Great ... "AL Amyloidosis". UNC. Archived from the original on 22 December 2011. Retrieved 22 November 2011. "Amyloidosis". University of ... UK NHS National Amyloidosis Centre Patient Information Site: information on AL amyloidosis Stanford University Amyloid Center ...

*Secondary cutaneous amyloidosis

... is a skin condition that occurs following PUVA therapy and in benign and malignant cutaneous ... Amyloidosis Skin lesion List of cutaneous conditions James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of ...

*Secondary systemic amyloidosis

Amyloidosis Primary systemic amyloidosis List of cutaneous conditions James, William D.; Berger, Timothy G.; et al. (2006). ... Secondary systemic amyloidosis is a condition that involves the adrenal gland, liver, spleen, and kidney as a result of amyloid ...

*Hereditary gelsolin amyloidosis

... is a cutaneous condition inherited in an autosomal dominant fashion. The condition was first ... It is a form of amyloidosis, where the amyloid complexes are formed from fragments of the protein gelsolin in the plasma, due ... Hereditary amyloidosis, Finnish type. The disorder primarily associated with eye, skin and cranial nerve symptoms. ...

*Primary cutaneous amyloidosis

... is a form of amyloidosis associated with oncostatin M receptor. This type of amyloidosis has been ... Nodular amyloidosis is a rare cutaneous condition characterized by nodules that involve the acral areas. Amyloidosis List of ... Combined cases of lichen and macular amyloidosis are termed biphasic amyloidosis, and provide support to the theory that these ... Lichen amyloidosis is a cutaneous condition characterized by the appearance of occasionally itchy lichenoid papules, typically ...

*Haemodialysis-associated amyloidosis

... is a form of systemic amyloidosis associated with chronic kidney failure. Long-term ... The tendency of haemodialysis-associated amyloidosis is to be articular in general affecting the joints. Low copper dialysis is ... "beta 2-Microglobulin modified with advanced glycation end products is a major component of hemodialysis-associated amyloidosis ...

*Isolated atrial amyloidosis

... is a form of amyloidosis affecting the atria of the heart. It is associated with accumulation of ...

*Organ-limited amyloidosis

... is a category of amyloidosis where the distribution can be associated primarily with a single organ. ... Cardiac amyloidosis Senile cardiac amyloidosis-may cause heart failure Congophilic angiopathy Amylin deposition can occur in ... It is contrasted to systemic amyloidosis, and it can be caused by several different types of amyloid. In almost all of the ... were sometimes classed as amyloidoses, as one of the four pathological features in diseased tissue is the presence of amyloid ...

*Transthyretin-related hereditary amyloidosis

Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis ... It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in ... FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary ... Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special ...

*DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Amyloidosis

The disease known as amyloidosis (pronounced am-i-loy-do'-sis) results when enough amyloid protein builds up in one or more ... Symptoms of Amyloidosis Ask the doctor medical forum for patients hosted by Med Help. A brief look at this disease and the ... Amyloidosis Support Network Provide complete, integrated, easy-to-reach support and information to existing information and ... Amyloidosis Support Groups US based, non-profit organization; find out about ASG and its services including newsletters, ...

*Protein losing enteropathy

Infection (secondary obstruction) Neoplasm (secondary obstruction) Sarcoidosis (secondary obstruction). Amyloidosis. Systemic ...
Breathnach, S. "Amyloid and amyloidosis". J Am Acad Dermatol. vol. 18. 1988. pp. 1-16. (This 1988 review still offers an excellent overview of primary systemic amyloidosis. Although the prognosis and treatment information is outdated, the sections covering the pathogenesis, histopathology clinical/diagnostic features (including cutaneous findings with images) comprehensively summarizes the current information found in the literature for primary systemic amyloidosis. This manuscript also provides a decent overview of primary localized cutaneous amyloidosis but most of the text is dedicated to primary systemic amyloidosis.). Borowicz, J, Gillespie, M, Miller, R. "Cutaneous amyloidosis". Skinmed. vol. 2. 2011. pp. 96-100. (Within this brief overview of cutaneous amyloidosis, this manuscript provides a current summary of the treatment options for nodular cutaneous amyloidosis with a focus on literature findings for dermabrasion, carbon dioxide laser therapy, and pulse dye laser treatment.). Desai, ...
TY - JOUR. T1 - Immunoglobulin light chain amyloidosis is diagnosed late in patients with preexisting plasma cell dyscrasias. AU - Kourelis, Taxiarchis. AU - Kumar, Shaji K. AU - Go, Ronald S.. AU - Kapoor, Prashant. AU - Kyle, Robert A.. AU - Buadi, Francis K.. AU - Gertz, Morie. AU - Lacy, Martha. AU - Hayman, Suzanne R.. AU - Leung, Nelson. AU - Dingli, David M. AU - Lust, John A.. AU - Lin, Yi. AU - Zeldenrust, Stephen R.. AU - Rajkumar, S Vincent. AU - Dispenzieri, Angela. PY - 2014/11/1. Y1 - 2014/11/1. N2 - AL amyloidosis (AL) is rare and frequently remains undiagnosed until organ function is compromised, even among patients with known pre-existing untreated plasma cell dyscrasias (PCD). We identified 168 patients with AL amyloidosis who had a prior untreated PCD. The earliest symptom or sign (s/s) was defined as the first symptom reported by the patient that could be attributed to organ dysfunction caused by AL. The interval from the time of development of s/s to the establishment of ...
Immunoglobulin light chain amyloidosis (AL) is a plasma cell dyscrasia characterized by deposition of amyloid fibrils in various organs and tissues, derived from monoclonal light chains, leading to organ dysfunction.1-3 High-dose melphalan with autologous stem cell transplant (HDM/SCT) is an effective treatment with high complete hematologic response rates (CR) and is capable of producing durable remissions and prolonged overall survival.4-6 Only selected patients are eligible to receive HDM/SCT, and treatment-related mortality is in the range of 5-15%. More effective and widely applicable treatment modalities in AL amyloidosis are, therefore, needed.. Clinical trials of alternate treatment options have tested non-transplant melphalan-based strategies and novel therapeutics such as lenalidomide and bortezomib. Oral melphalan and dexamethasone (M-Dex) is a standard regimen for patients not eligible to receive HDM/SCT; reported complete response rates range from 13% to 33% and median overall ...
This case report concerns a patient who presented a diagnostic problem of cardiomegaly and myocardial failure of unknown etiology and in whom the outstanding pathologic finding at autopsy was primary systemic amyloidosis with marked cardiac involvement. An additional finding of great interest was the presence of numerous Russell bodies in the bone marrow. For previously reported cases (approximately 100) and reviews of the literature of primary systemic amyloidosis,1-14 we found no report of similar bone marrow findings though Snapper, Turner and Moscovitz15 have reported Russell bodies in the bone marrow in atypical amyloidosis accompanying multiple myeloma. Morphologically, amyloidosis associated with ...
AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in the extracellular space of various tissues and organs. In AA amyloidosis, the deposited protein is serum amyloid A protein (SAA), an acute-phase protein which is normally soluble and whose plasma concentration is highest during inflammation. AA amyloidosis is a complication of a number of inflammatory diseases and infections, although only a small portion of patients with these conditions will go on to develop AA amyloidosis. A natural history study of AA amyloidosis patients published in the New England Journal of Medicine reported a number of conditions associated with AA amyloidosis. The most common presentation of AA amyloidosis is renal in nature, including proteinuria, nephrotic syndrome and progressive development of renal insufficiency leading to End Stage Renal Disease (ESRD) and need for renal replacement therapy (e.g. dialysis or renal transplantation). ...
Amyloidosis is a disorder caused by misfolding of autologous protein and its extracellular deposition as fibrils, resulting in vital organ dysfunction and eventually death. Pulmonary amyloidosis may be localised or part of systemic amyloidosis.. Pulmonary interstitial amyloidosis is symptomatic only if the amyloid deposits severely affect gas exchange alveolar structure, thus resulting in serious respiratory impairment. Localised parenchymal involvement may be present as nodular amyloidosis or as amyloid deposits associated with localised lymphomas. Finally, tracheobronchial amyloidosis, which is usually not associated with evident clonal proliferation, may result in airway stenosis.. Because the treatment options for amyloidosis are dependent on the fibril protein type, the workup of all new cases should include accurate determination of the amyloid protein. Most cases are asymptomatic and need only a careful follow-up. Diffuse alveolar-septal amyloidosis is treated according to the underlying ...
... is a disease in which amyloid, an unusual protein that normally isnt present in the body, accumulates in various tissues.. Many forms of amyloidosis exist. In primary amyloidosis, the cause isnt known. However, the disease is associated with abnormalities of plasma cells, as is multiple myeloma, which may also be associated with amyloidosis. In secondary amyloidosis, the amyloidosis is secondary to another disease such as tuberculosis, infections of the bone, rheumatoid arthritis, familial Mediterranean fever, or granulomatous ileitis. A third form, hereditary amyloidosis, affects nerves and certain organs; it has been noted in people from Portugal, Sweden, Japan, and many other countries.. Another form of amyloidosis is associated with normal aging and particularly affects the heart. What causes amyloid to build up excessively usually isnt known. However, amyloidosis can be a response to various diseases that cause persistent infection or inflammation. Yet another form of ...
Amyloidosis is the extracellular deposition of insoluble amyloid fibrilprotein in any tissue or organ.[1] The most common subtypes of the disease are AL amyloidosis and AA reactive amyloidosis.[1] AL amyloidosis is a systemic disease caused by immunoglobulin light chain fragments, while AA amyloidosis is a potential complication of recurrent inflammation leading to the production of serum amyloid A, an acute phase reactant.[2] Pulmonary amyloidosis is a localized form of amyloid deposition that is confined to the lung parenchyma.[
TY - JOUR. T1 - Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). AU - Gertz, Morie. AU - Lacy, Martha. AU - Gastineau, D. A.. AU - Inwards, D. J.. AU - Chen, M. G.. AU - Tefferi, Ayalew. AU - Kyle, R. A.. AU - Litzow, Mark R. PY - 2000. Y1 - 2000. N2 - This study investigated the response rate and toxicity of blood cell transplantation as treatment for primary amyloidosis (AL). Twenty-three patients had stem cells collected between November 1995 and September 1998. Conditioning included melphalan and total body irradiation in 16 and melphalan alone in 4. Three patients did not undergo stem cell infusion because of poor performance status. Two died of progressive amyloid at 1 and 3 months. One patient is alive on hemodialysis. Fourteen males and six females (median age, 57 years) underwent transplantation. Renal, cardiac (by echocardiography), peripheral neuropathy or liver amyloidosis occurred in 14, 12, 3, and 1, respectively. Echocardiography demonstrated an ...
Cardiac amyloidosis. Section through a heart from a person affected by primary systemic amyloidosis. Amyloidosis is characterised by a build-up of the protein amyloid. Primary systemic amyloidosis, or amyloid light-chain (AL) amyloidosis, is caused by malfunctioning antibody-producing cells that produce abnormal protein fibres (light chains), which clump together to form amyloid deposits in the bodys organs. There is no cure for amyloidosis, but the production of amyloid in the body can be slowed down by certain medications. - Stock Image C023/5511
Demographics: Patients can be of almost any age, from childhood to elderly, depending on the underlying cause. Primary amyloidosis shows a male predominance.. Cardinal Findings: In primary amyloidosis, the most commonly involved organs are the kidney, heart, liver, and skin; skeletal muscle and the tongue may also be affected. Peripheral neuropathies are seen, but the central nervous system (CNS) is generally not involved. Secondary amyloidosis most commonly presents with nephrotic syndrome or gastrointestinal (GI) bleeding. Macroglossia is not seen with secondary amyloidosis. The initial finding in hemodialysis associated amyloid is often CTS.. Uncommon Manifestations: In primary amyloidosis, amyloid deposits may be seen in the synovium and occasionally in the synovial fluid.. Diagnostic Tests: Biopsies of affected tissues are usually required. The tissues are stained with Congo red and viewed under polarized light. Kidney and peripheral nerve biopsy specimens can be useful if there are known ...
Nodular pulmonary amyloidosis (NPA) is an uncommon pathology of insoluble protein depositing in pulmonary parenchyma. This localized pulmonary form of amyloidosis is most often found to contain combinations of kappa and lambda immunoglobulin light chain and immunoglobulin heavy chain proteins with a polyclonal lymphoplasmacystic infiltrate. Herein we present two cases of NPA of the rarely reported monoclonal (light-chain restricted) form with review of the literature and discussion of the clinical, radiographic, and histologic features of NPA.
The UK ATTR Amyloidosis Patients Association (UKATPA) was founded in 2017 by a group of UK patients with transthyretin (TTR)-type systemic amyloidosis (ATTR), supported by the consultant physicians of the UK NHS National Amyloidosis Centre.. In recent years there have been major advances in the field of ATTR amyloidosis. The processes responsible for formation of TTR amyloid have been elucidated for the first time and intense activity in drug development promises the early advent of potentially effective prophylactic and disease modifying new medicines. Hereditary ATTR amyloidosis, caused by mutations in the TTR gene, is the most common form of hereditary amyloidosis but is nonetheless very rare. However, crucially, there is now compelling evidence that acquired ATTR amyloidosis, caused by normal wild type TTR, is far more common than was previously believed.. In this exciting environment of change and optimism, our members decided to found a UK patient group dedicated to the interests of ...
TY - CHAP. T1 - Definition of organ involvement and treatment response in primary systemic amyloidosis (Al). T2 - A consensus opinion from the 10 th international symposium on amyloid and amyloidosis. AU - Gertz, Morie A.. AU - Comenzo, Ray. AU - Falk, Rodney H.. AU - Fermand, Jean Paul. AU - Hazenberg, Bouke P.. AU - Hawkins, Philip N.. AU - Merlini, Giampaolo. AU - Moreau, Philippe. AU - Ronco, Pierre. AU - Sanchorawala, Vaishali. AU - Sezer, Orhan. AU - Solomon, Alan. AU - Grateau, Giles. PY - 2004/1/1. Y1 - 2004/1/1. UR - http://www.scopus.com/inward/record.url?scp=17744382676&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=17744382676&partnerID=8YFLogxK. M3 - Chapter. SN - 0849335345. SN - 9780849335341. SP - 151. EP - 153. BT - Amyloid and Amyloidosis. PB - CRC Press. ER - ...
Abstract. Background: Primary systemic amyloidosis (AL) is an incurable plasma cell disorder. Lenalidomide, especially in conjunction with dexamethasone, has b
Primary systemic amyloidosis (AL) is a rare disorder characterized by production of an aberrant monoclonal light chain. This insoluble light chain, or a fragment thereof, deposits in tissues as amyloid and results in disruption of organ function and, ultimately, death. Although melphalan and prednisone were reported to benefit subsets of patients with the disease, many patients showed no benefit; the median survival with the disease is ∼2 years. There is a need to develop new agents for patients who fail to respond to a trial of cytotoxic chemotherapy. A study was undertaken of interferon alfa-2 in the treatment of 15 patients with AL because of its reported benefits in the induction and maintenance therapy for patients with multiple myeloma, a disease that has many characteristics in common with AL. None of the patients showed any objective regression of their disease; the median survival of the entire group was 26.3 months. This survival is not superior to that reported with other agents ...
RATIONALE: Giving melphalan and bortezomib before and after a stem cell transplant stops the growth of abnormal cells by stopping them from dividing or killing them. Giving colony-stimulating factors and certain chemotherapy drugs, helps stem cells move from the bone marrow to the blood so they can be collected and stored. Chemotherapy and monoclonal antibody therapy is then given to prepare the bone marrow for the stem cell transplant. The stem cells are then returned to the patient to replace the blood-forming cells that were destroyed by the chemotherapy.. PURPOSE: This phase II trial is studying how well giving melphalan together with bortezomib followed by stem cell transplant works in treating patients with primary systemic amyloidosis. ...
Amifostine and Melphalan in Treating Patients With Primary Systemic Amyloidosis Who Are Undergoing Peripheral Stem Cell Transplantation - Article Information
RATIONALE: Collecting and storing samples of blood, urine, and tissue from patients with primary systemic amyloidosis to test in the laboratory may help
Renal amyloidosis is a glomerulopathy resulting from glomerular deposition of insoluble fibrillar proteins in the mesangium of the glomerulus. Definition, classification, epidemiology, clinical presentation, diagnosis, and treatment of amyloidosis: see Amyloidosis.. Diagnosis is confirmed by the presence of amyloid protein on immunofluorescence and electron microscopy. Many different types of amyloid protein exist, but the two most common subtypes are AL and AA amyloid:. 1) AL amyloidosis is the most common renal amyloidosis. It results in organized deposits of light chains in the glomerulus. Renal involvement occurs in approximately 50% of patients and manifests as decreased renal function and proteinuria. Nephrotic syndrome can occur. Hypertension is usually absent and the kidneys are often enlarged. Renal treatment response is related to the degree of improvement in light chain production from the underlying condition. Proteinuria and renal function improve with successful therapy.. 2) AA ...
TY - JOUR. T1 - Successful sequential liver and stem cell transplantation for hepatic failure due to primary AL amyloidosis. AU - Kumar, K. Shiva. AU - Lefkowitch, Jay. AU - Russo, Mark W.. AU - Hesdorffer, Charles. AU - Kinkhabwala, Milan. AU - Kapur, Sandip. AU - Emond, Jean C.. AU - Brown, Robert S.. PY - 2002. Y1 - 2002. N2 - We report on a patient with primary AL amyloidosis who presented with progressive liver failure secondary to hepatic infiltration in the absence of significant extrahepatic involvement. Orthotopic liver transplantation was performed successfully. After an uneventful postoperative course, the patient developed evidence of significant recurrent amyloidosis requiring treatment. He then underwent stem cell transplantation 10 and 14 months after liver transplantation. After 28 months of follow-up posttransplantation, the patient continues to do well, with no clinical evidence of recurrent disease. This is the first reported patient with primary amyloidosis to undergo ...
High-dose melphalan with autologous stem cell transplantation (ASCT) can induce durable haematological and organ responses in systemic AL amyloidosis (AL). Stringent selection criteria have improved safety of ASCT in AL but most patients are transplant-ineligible. We report our experience of deferred ASCT in AL patients who were transplant-ineligible at presentation but had improvements in organ function after induction chemotherapy, enabling them to undergo ASCT. Twenty-two AL patients underwent deferred ASCT from 2011 to 2017. All had serial organ function and clonal response assessment. Organ involvement and responses were defined by amyloidosis consensus criteria. All patients were transplant-ineligible at presentation, predominantly due to advanced cardiac involvement. All received bortezomib-based therapy, with 100% haematologic response (86% complete response (CR)/very good partial response (VGPR)), enabling reversal of ASCT exclusion criteria. Patients underwent deferred ASCT for ...
TY - JOUR. T1 - Cardiac Light Chain Amyloidosis: The Role of Metal Ions in Oxidative Stress and Mitochondrial Damage. AU - Diomede, L.. AU - Romeo, M.. AU - Rognoni, P.. AU - Beeg, M.. AU - Foray, C.. AU - Ghibaudi, E.. AU - Palladini, G.. AU - Cherny, R. A.. AU - Verga, L.. AU - Capello, G. L.. AU - Perfetti, V.. AU - Fiordaliso, F.. AU - Merlini, G.. AU - Salmona, M.. N1 - LR: 20170920; JID: 100888899; OTO: NOTNLM; PMCR: 2018/09/20 00:00; 2018/09/20 00:00 [pmc-release]; 2017/01/31 06:00 [pubmed]; 2017/01/31 06:00 [medline]; 2017/01/31 06:00 [entrez]; ppublish. PY - 2017/9/20. Y1 - 2017/9/20. N2 - AIMS: The knowledge of the mechanism underlying the cardiac damage in immunoglobulin light chain (LC) amyloidosis (AL) is essential to develop novel therapies and improve patients outcome. Although an active role of reactive oxygen species (ROS) in LC-induced cardiotoxicity has already been envisaged, the actual mechanisms behind their generation remain elusive. This study was aimed at further ...
Another name for Primary Amyloidosis is Amyloidosis. A person with amyloidosis may benefit from the following low salt diet. Many experts recommend that ...
Protein aggregation is the cause of several human diseases such as diabetes mellitus type 2, Parkinson s disease, Alzheimer s disease, Huntington s disease, spongiform encephalopathies, congestive heart failure or dialysis-related amyloidosis. All of these disorders result from protein misfolding which leads to fibrillization and deposition of amyloid plaques in different parts of the body.Due to high molecular weight of the amyloid fibrils and intrinsic heterogeneity of the intermediate states, protein aggregation is a very challenging field of study for the structural biologist. However, nuclear magnetic resonance (NMR) provides a unique possibility to investigate aggregation at all stages, from the monomer to the fibrils.In this work, structural changes involved in prion diseases and dialysis-related amyloidosis are investigated with the help of various NMR techniques.Prion diseases are caused by the aggregation of the natively α-helical prion protein PrPC into its pathological β-sheet-rich ...
Another name for Primary Amyloidosis is Amyloidosis. The following are some important questions to ask before and after the treatment of amyloidosis. ...
Chronic renal disease is a serious complication of long-term intravenous drug use (IVDU). Recent reports have postulated a changing pattern of underlying nephropathy over the last decades. Retrospective investigation including all patients with prior or present IVDU that underwent renal biopsy because of chronic kidney disease between 01.04.2002 and 31.03.2012 in the city of Frankfurt/Main, Germany. Twenty four patients with IVDU underwent renal biopsy because of progressive chronic kidney disease or proteinuria. Renal AA-amyloidosis was the predominant cause of renal failure in 50% of patients. Membranoproliferative glomerulonephritis (GN) was the second most common cause found in 21%. Patients with AA-amyloidosis were more likely to be HIV infected (67 vs.17%; p=0.036) and tended to have a higher rate of repeated systemic infections (92 vs. 50%; p=0.069). Patients with AA-amyloidosis presented with progressive renal disease and nephrotic-range proteinuria but most patients had no peripheral edema or
AL amyloidosis is caused by a clonal plasma cell dyscrasia and characterized by progressive deposition of amyloid fibrils derived from monoclonal Ig light chains, leading to multisystem organ failure and death. The prognosis for AL amyloidosis with conventional treatment remains poor, Autologous stem cell transplantation (ASCT) for AL amyloidosis produces high hematologic and organ responses. However, treatment-related mortality remains high and reported series are subject to selection bias ...
Title. Using High-Dose Melphalan Plus Peripheral Stem Cell Transplantation to Treat Patients with Primary Systemic Amyloidosis (A Phase II Study). Sponsor. Eastern Cooperative Oncology Group through the NCI-sponsored Cancer Cooperative Group Program. Purpose of the Study. The purpose of this study was to evaluate the safety and effectiveness of high doses of the chemotherapy drug melphalan plus peripheral stem cell transplantation in treating patients who have primary systemic amyloidosis. Amyloidosis is a disease in which a certain type of protein is deposited in various organs, causing abnormal function. It can be caused by cancer or some other disease, or may have no known cause.. Results. The purpose of this study was to evaluate the safety and effectiveness of high doses of the chemotherapy drug melphalan plus peripheral stem cell transplantation in treating patients who have primary systemic amyloidosis. Amyloidosis is a disease in which a certain type of protein is deposited in various ...
The systemic amyloidoses are a number of disorders of varying etiology characterized by extracellular protein deposition. The most common form is an acquired amyloidosis secondary to multiple myeloma or monoclonal gammopathy of unknown significance (MGUS) in which the amyloid is composed of immunoglobulin light chains. In addition to light chain amyloidosis, there are a number of acquired amyloidoses caused by the misfolding and precipitation of a wide variety of proteins. There are also hereditary forms of amyloidosis.. The hereditary amyloidoses comprise a group of autosomal dominant, late-onset diseases that show variable penetrance. A number of genes have been associated with hereditary forms of amyloidosis, including those that encode transthyretin, apolipoprotein AI, apolipoprotein AII, fibrinogen alpha chain, gelsolin, cystatin C and lysozyme. Apolipoprotein AI, apolipoprotein AII, lysozyme, and fibrinogen amyloidosis present as non-neuropathic systemic amyloidosis, with renal dysfunction ...
A 62-year-old male smoker was reviewed for increasing dyspnoea, hoarseness and stridor. The patient underwent a bronchoscopic examination of the airway that revealed two large kissing fleshy tracheal lesions just below the vocal cords (figure 1). A biopsy was taken. The histological image (figure 2) was stained using a Congo Red Staining Kit which selectively demonstrates amyloid in the biopsy sample as bright pink and is marked A in the image. The darker coloured cells represent airway epithelium. Pulmonary amyloidosis is rare and patients may present with tracheobronchial infiltration, parenchymal infiltration (amyloidoma), persistent pleural effusions or pulmonary hypertension. Symptoms of tracheobronchial amyloidosis include hoarseness, stridor, dyspnoea and overt airway obstruction. Invasive bronchoscopic therapies such as argon photocoagulation, bronchoscopic Nd:YAG laser debulking or surgical debulking may be required to relieve the obstruction.1. ...
Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme. It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. "Amyloid". Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN (2009). "Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis". Journal of the American Society of Nephrology : JASN. 20 (2): 444-51. doi:10.1681/ASN.2008060614. PMC 2637055 . PMID 19073821. Uemichi T, Liepnieks JJ, Gertz MA, Benson MD (September 1998). "Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal ...
Results were recently published for the first trial of CPHPC as a therapy to clear out age-related deposits of the type of amyloid formed from misfolded transthyretin, normally responsible for transporting the thyroid hormone thyroxine in blood and cerebrospinal fluid. Amyloids are one of the distinguishing features of older tissues, and clearing them will be one of the necessary outcomes produced by any comprehensive suite of rejuvenation therapies developed in the near future.. The accumulation of transthyretin amyloid creates a condition known as senile systemic amyloidosis where it occurs to varying degrees for everyone in later life, and TTR amyloidosis when it arises in young people due to inherited mutations. Senile systemic amyloidosis is known to be responsible for a sizable fraction of deaths in supercentenarians, as the amyloid deposits clog the cardiovascular system to the point of failure. This process is also thought to play an underappreciated role in heart failure in the younger ...
RATIONALE: Giving bortezomib together with melphalan and dexamethasone may be an effective treatment for primary amyloidosis and light chain deposition
Background: Cardiac involvement in primary amyloidosis (AL) is associated with poor prognosis. We studied the prognostic significance of clinical, ECG and echocardiographic parameters of patients with primary cardiac amyloidosis.. Methods: 60 patients with primary amyloidosis and cardiac involvement documented by endomyocardial tissue biopsy were studied.. Results: 60 patients (mean age 57.94±10.22 years; 71.67% male and 86.67% Caucasian) were studied. The median survival was 12.23 (median) ±4.43 months, 50% of patients survived for more than 1 year. Congestive heart failure (NYHA II-IV) was present in 60% of patients. Low voltage, Q wave, conduction abnormalities, first degree AV block and abnormal QRS axis were present in 54.24%, 51.72%, 71.67%, 21.67% and 57.72% respectively. Echocardiogram revealed LVH, mitral regurgitation, left atrial enlargement, speckled appearance and pericardial effusion in 82.76%, 62%, 63.16%, 8.77% and 42.11% respectively. LVEF, RVSP, IVS and LVPW were 0.479±.129, ...
Objective: To investigate the prevalence and distribution of gadolinium (Gd) enhancement at cardiac magnetic resonance (CMR) imaging in patients with cardiac amyloidosis (CA) and to look for associations with clinical, morphological, and functional features.. Patients and design: 21 patients with definitely diagnosed CA (nine with immunoglobulin light chain amyloidosis and 12 transthyretin related) underwent Gd-CMR.. Results: Gd enhancement was detected in 16 of 21 (76%) patients. Sixty six of 357 (18%) segments were enhanced, more often at the mid ventricular level. Transmural extension of enhancement within each patient significantly correlated with left ventricular (LV) end systolic volume (r = 0.58). The number of enhanced segments correlated with LV end diastolic volume (r = 0.76), end systolic volume (r = 0.6), and left atrial size (r = 0.56). Segments with , 50% extensive transmural enhancement more often were severely hypokinetic or akinetic (p = 0.001). Patients with , 2 enhanced ...
TY - JOUR. T1 - Persistent fever and destructive arthritis caused by dialysis-related amyloidosis. AU - Matsumoto, Kotaro. AU - Kikuchi, Jun. AU - Kaneko, Yuko. AU - Yasuoka, Hidekata. AU - Suzuki, Kazuko. AU - Tokuyama, Hirobumi. AU - Kameyama, Kaori. AU - Yamaoka, Kunihiro. AU - Takeuchi, Tsutomu. PY - 2018/1/1. Y1 - 2018/1/1. N2 - Rationale: Dialysis-related amyloidosis (DRA) can present rheumatic manifestations in patients on long-term hemodialysis. Typical articular symptoms with DRA involve carpal-tunnel syndrome, effusion in large joints, spondyloarthropathy, or cystic bone lesions, which are usually with non-inflammatory processes. Patient concerns: A 64-year-old man on hemodialysis for ,30 years was admitted because of intermittent fever, polyarthritis, and elevated serum C-reactive protein (CRP) level, which was continuous for 2 years. Several antibiotics were ineffective for 3 months before his admission. On physical examination, joint swelling was observed at bilateral wrists, knees, ...
Results The direct numeric result from hs-cTnT measurement cannot merely be substituted for a cTnT measurement in the Mayo AL staging system. The performance of the receiver operator curve derived an hs-cTnT cut-point of 54 ng/L which improves on the value of 35 ng/L validated with the prior iteration of the assay. An alternate staging option using hs-cTnT alone-using the two thresholds 14 ng/L and 54 ng/L-performs as well as either the original Mayo AL staging system or other systems incorporating hs-cTnT. On multivariate analysis, an hs-cTnT alone staging system was independent of period of diagnosis, type of therapy, and NT-proBNP value, the last of which dropped out of the model. Alternate models were explored, but none performed better than the original system or the new hs-cTnT system. Thus, hs-cTnT can be used alone for the staging of disease prognosis.. ...
Primary Systemic Amyloidosis (AL) is the most frequent form of systemic amyloidosis and its morbilility is associated with immunoglobulin light chains deposition in vital organs. The mucocutaneous manifestations occur in about 30-40% of the cases and are important in diagnostic suspicion, once they appear in early stages of disease. We report a 71-years-old female patient, with disseminated purpura and cutaneous fragility with 6 months of evolution, accompanied by recent complaints of dysphagy. The first laboratory evaluation didnt show any alterations. The histological and immunohistochemical study of subcutaneous abdominal fat and skin biopsy showed lambda type amyloid protein. In the systemic work-up, we highlight a proteinúria , 1g/24h with Bence Jones proteins and the presence of monoclonal immunoglobulin light chain (lambda type) in serum immunoelectrophoresis. With the diagnosis of primary systemic amyloidosis, treatment with prednisolone and melphalan was started ...
Mice that constitutively express the human interleukin 6 (huIL6) protein from a heritable transgene (H2-Ld-IL-6) express high levels of the acute-phase reactant, serum amyloid protein A, a liver-derived apoprotein of high-density lipoprotein that is the precursor of AA amyloid. Typically at approximately 5 mo of age B6(C)-Tg(H2-Ld-IL-6)Kish (H2/huIL-6) animals begin to develop splenic deposits of AA amyloid, which progress to involve the liver, kidney, and vasculature, ultimately resulting in death due to severe systemic AA amyloidosis at 8 to 9 mo of age. These mice provide a robust model in which to study novel therapeutic and diagnostic imaging agents for AA amyloidosis. We recently have noted a change in onset of spontaneous disease, as evidenced by 2 female transgenic mice that were found moribund at only 5 mo of age. Extensive hepatosplenic amyloid deposits in both mice were identified and quantified by single-photon emission computed tomography, which further revealed heterogeneous ...
The cause of the electrocardiographic abnormalities in amyloidosis is a matter of controversy despite attempts of clinicopathological correlation. Detailed correlative studies of the involvement of cardiac conduction system in amyloidosis are few and have produced conflicting results. Some authors favour the hypothesis that infiltration of the conducting system by amyloid deposits is the main reason for the disturbances of conduction [19]. In familial amyloidosis with polyneuropathy, amyloid infiltration of the sinus node and atrioventricular conduction system is now well documented, and this seems to account for the majority of the electrophysiological disturbances of these regions [20, 21, 22].The distribution and extent of heart infiltration by amyloid are not, however, uniform. On the other hand, other authors have concluded that direct infiltration by amyloid is of lesser importance [14]. Autonomous neuropathy due to amyloid may also contribute to the electrophysiological disturbances. In ...
This is the first reported case of familial amyloid cardiomyopathy associated with TTR Ile122 in a white patient. The Ile122 mutation is present in 4% of African Americans and usually results in isolated cardiac amyloidosis from age 60 years onwards, presenting with cardiac failure and/or arrhythmia. Occasionally, there is associated carpal tunnel syndrome, and peripheral polyneuropathy has been reported.3 Amyloid deposits of wild-type TTR are found in 25% of hearts from people over 80 years old, examined after death.6 These deposits do not always cause clinical symptoms but the possibility of amyloidosis should be considered when treating elderly patients with heart failure, particularly in cases resistant to conventional treatment with diuretics and ACE inhibitors. The diagnosis of cardiac amyloidosis is suggested by an ECG showing small complexes and/or anterior Q waves in association with concentric left ventricular hypertrophy or restrictive physiology and occasionally a speckled myocardium ...
There is no detailed description of the clinical characteristics of patients with RA before the onset of intractable diarrhoea associated with secondary amyloidosis in previous case reports.14-17 Our present retrospective study showed that before the onset of diarrhoea, most patients showed high activity of arthritis and repeated prodromal gastrointestinal symptoms. Furthermore, some cases showed possible causes of induction of intractable diarrhoea (that is, operation, infection or extraarticular manifestation). SAA, which is the precursor of amyloid A protein, is known to be synthesised in the liver and the process is stimulated by macrophage derived cytokines such as interleukin 1, interleukin 6 or tumour necrosis factor, thus it rapidly increases in blood at the time of acute inflammation in parallel with acute phase proteins such as C reactive protein.20 It is considered that high activity of arthritis, infection, surgery and extraarticular manifestation of RA induce a rapid increase of SAA ...
Before taking the steps to participate in any of our research projects, please read the article here.. Amyloidosis. Lead contact: Maria Longeri - University of Milan ([email protected]). Introduction. Amyloidosis is characterized by abnormal deposits of a protein complex (amyloid) in tissues and organs, which affects their functions and eventually can lead to organ failure and death. It occurs in both wild and domestic felids, including random-bred cats. Amyloidosis is well known as a familial trait in the Abyssinian/Somali breeds that mainly affects the kidneys, and in the Siamese/Oriental breeds that mainly affects the liver.. In humans, several types of amyloidosis exist and are associated with myeloma, Alzheimers disease, and chronic inflammatory diseases. Single genes have also been identified as causes for different inherited forms of amyloidosis. Therefore, Feline Amyloidosis is an interesting model for understanding the cause and development of the similar human ...
A recent study has demonstrated secondary amyloidosis in dogs treated with continuous intravenous insulin infusion. Since elevated levels of serum amyloid A protein (SAA) and diminished amyloid fibril degrading activity (AFDA) are associated with amyloidosis, we measured SAA and AFDA in ten type I diabetics treated with continuous subcutaneous insulin infusion and in five conventionally treated patients. Only one pump- and one conventionally treated patient had detectable but low SAA levels, comparable with these seen in healthy controls. In patients with secondary amyloidosis the mean SAA level was 24-fold higher than in controls (P , 0.001). Similarly, in both diabetic groups, AFDA was normal whereas it was reduced by 41% in patients with amyloidosis (P , 0.001). Furthermore, no local amyloidosis was seen at the infusion site in any of the patients studied. Thus, our data fail to provide any evidence of secondary amyloidosis in patients treated for 3-40 mo with continuous subcutaneous insulin ...
Primary amyloidosis is a systemic disorder caused by the clonal production and tissue deposition of immunoglobulin light chain proteins. The disease symptoms are typical of multisystem failure. Common presenting features include nephrotic syndrome, hepatomegaly, sensomotor peripheral neuropathy and, in the case of cardiac involvement, congestive heart failure. This last sign appears very seldom as alone, without any others. Cardiac involvement generally denotes a poor prognosis, regardless of the method of treatment. The median survival rate from onset of congestive heart failure is 6 months. Only the patients with earliest diagnosis made and advanced treatment (chemotherapy, autologous stem-cell transplantation, heart transplantation) introduced have the chance of the lengthening of life. The authors present a case of 52-year-old man with a primary amyloidosis, who suffered from severe, not responding to treatment, congestive heart failure. Because of lack of the other organ involvement ...
Primary amyloidosis information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
OBJECTIVES: The aim of this study was to compare left ventricular longitudinal strain (LS) evaluated by 2-dimensional echocardiography with cardiac magnetic resonance (CMR) in cardiac amyloidosis (CA), establish correlations between histological and imaging findings, and assess the prognostic usefulness of LS measurement and CMR.. BACKGROUND: CA is a condition with a poor prognosis due chiefly to 3 forms of amyloidosis: light-chain amyloidosis (AL), hereditary transthyretin (M-TTR), and wild-type transthyretin (WT-TTR). Two-dimensional echocardiography measurement of LS has been reported to detect early left ventricular systolic dysfunction. The pathophysiological underpinnings, regional distribution, and prognostic significance of LS in CA are unclear.. METHODS: All patients underwent echocardiography, and 53 underwent CMR. The native hearts of the 3 patients who received heart transplants were subjected to histological examination. For each of the 17 left ventricular segments in the American ...
Q: How does cardiac involvement affect the prognosis of patients with AL amyloidosis?. A: Clinical cardiac involvement occurs in up to 50% of cases and is a poor prognostic sign, conferring a life expectancy of less than 6 months if left untreated. In contrast to the indolent nature of cardiovascular involvement in transthyretin-associated amyloidoses, cardiac disease in AL amyloidosis can be rapidly progressive; light chains may contribute to the damage through direct toxic effects on the myocardium.. Q: How is AL amyloidosis treated?. A: Chemotherapy may result in a cure or prolong life in patients with AL amyloidosis. In a case series of patients treated with high-dose chemotherapy and autologous stem-cell transplantation, treatment-related mortality was high but approximately 75% of the patients were alive at 1 year, and 40% of these patients had a complete hematologic response. When patients are ineligible this type of treatment, high-dose dexamethasone and melphalan has been reported to ...
BackgroundAmyloid is insoluble aggregated proteins deposited in the extra cellular space. About 25 different proteins are known to form amyloid in vivo and are associated with severe diseases such as Alzheimeŕs disease, prion diseases and type-2 diabetes. Light chain (AL) -amyloidosis is unique among amyloid diseases in that the fibril protein, a monoclonal immunoglobulin light chain, varies between individuals and that no two AL-proteins with identical primary structures have been described to date. The variability in tissue distribution of amyloid deposits is considerably larger in systemic AL-amyloidosis than in any other form of amyloidosis. The reason for this variation is believed to be based on the differences in properties of the amyloidogenic immunoglobulin light chain. However, there is presently no known relationship between the structure of an AL-protein and tissue distribution.Methodology/Principal FindingsWe compared the pattern of amyloid deposition in four individuals with amyloid
ABSTRACT. Introduction. Amyloidosis is a rare disease associated with extracellular accumulation of abnormal protein - amyloid in various organs and systems. This disease can be either acquired or hereditary, systemic or localized. At its core, it represents a grown, tumor-like neoplastic clone of the plasma cells in the bone marrow. Gastrointestinal amyloidosis is manifested by symptoms, such as diarrhea, steatorrhea, constipation, and very rarely - hemorrhages and perforations of the colon.. Case presentation. We present a case of primary intestinal amyloidosis with recurrent hematochezia and abdominal pain in a 61-year-old woman. Colonoscopy revealed polyposis of the whole colon and a total colectomy was performed, followed by morphological and paraclinical examinations. Histologically, amyloid deposition, positive for Congo red, was found in the walls of the submucosal blood vessels and in the smooth muscle cells of the muscular layers. The laboratory tests indicated anemia, high erythrocyte ...
In this, the largest ever CMR study in patients with amyloidosis, we found that native myocardial T1 mapping has a high diagnostic accuracy for cardiac amyloid for both AL and ATTR when compared against HCM, a relevant clinical differential diagnosis. Furthermore, T1 tracks cardiac amyloid burden in both diseases, and is more sensitive for detecting early disease in gene mutation carriers than LGE imaging. In both amyloid types, T1 tracks markers of systolic and diastolic function, mass, and prognostic markers. In ATTR amyloid, T1 additionally correlates with ECG PR and QRS duration and indexed left atrial area, whereas in AL type, it correlates with reductions in limb lead voltages. T1 also has functional associations with a reduction in 6-min walk test in ATTR amyloidosis. Interestingly and perhaps unexpectedly (16), T1 elevation was lower in ATTR compared with AL type.. Amyloidosis is considered the exemplar of an interstitial disease, as the quantity of amyloid in the extracellular space ...
Background. Renal amyloidosis results from protein misfolding and leads to progressive renal insufficiency. Few data are available concerning the relevance of the histomorphological patterns and the dynamics of the disease process.. Methods. Cases of renal amyloidosis in native kidney biopsies (n = 203) were retrospectively evaluated for the pattern of amyloid distribution, the extent of glomerular amyloid deposition and the amount of interstitial fibrosis and tubular atrophy. One hundred and fifty-eight cases were characterized by immunohistochemistry to determine the biochemical amyloid type. Morphological findings were correlated with available clinical data.. Results. According to the predominant site of amyloid deposition, 84.6% showed a glomerular, 9.4% a vascular and 6% a tubulointerstitial distribution pattern. Within the glomeruli, amyloid was initially deposited in a focal segmental fashion that became diffuse and global in later stages. Most cases were identified as AL lambda (84/158) ...
Localized cutaneous amyloidosis (LCA) refers to a condition characterized by the deposition of amyloid or amyloid-like proteins in the dermis. Localized cutaneous amyloidosis encompasses several conditions characterized by amyloid deposition, including macular amyloidosis and lichen amyloidosis.
We introduced criteria for the clinical diagnosis of dialysis-related amyloidosis (DRA) from the Amyloidosis Research Group study supported by a Grant-in-Aid from the Ministry of Health, Labour and Welfare of Japan. DRA exhibits various kinds of bone articular lesions, such as carpal tunnel syndrome, trigger finger, destructive spondyloarthropathy, spinal canal stenosis, and joint pains. These bone articular lesions, excluding destructive spondyloarthropathy, are observed in non-dialysis patients or dialysis patients without DRA. We carefully compared these lesions between DRA and non-DRA patients and summarized the differences between them. The incidence age, male to female ratio, and coincidence rate were distinct between these groups of patients. Biopsies from bone articular lesions are invasive and burdensome for dialysis patients; therefore, a precise clinical diagnosis is required for DRA. We discussed the validity and availability of our proposed criteria.
Credence Research has recently issued a new market assessment report titled "Amyloidosis Therapeutic Treatment - Growth, Future Prospects and Competitive Analysis, 2016 - 2022". The global Amyloidosis Therapeutic Treatment Market study provides a comprehensive view of the ongoing and future phases of the Amyloidosis Therapeutic Treatment industry based on parameters such as major commercial events, research initiatives, government guidelines, market drivers, restraints and opportunities and detailed industry segmentation and regional distribution.. Browse the report at http://www.credenceresearch.com/report/amyloidosis-therapeutic-treatment-market. Based on geographic/regional distribution the global Amyloidosis Therapeutic Treatment Market is studied for key regional markets focusing on the respective geographic trends and statistics, and thereby delivering market size and forecast values. The Amyloidosis Therapeutic Treatment Market based on geographic classification is studied for North ...
Renal Amyloidosis. Light micrograph of a human kidney showing amyloid deposits (pink) in glomeruli. Its deposition causes disruption of tissues, loss of functioning cells and if arteries are involved, a reduction in blood supply. It is associated with diseases such as rheumatoid arthritis & some cancers. The kidneys are the organs most commonly involved in amyloidosis. Renal failure caused by widespread amyloidosis accounts for the majority of deaths from the disease. Magnification: 250 when printed 10cm wide. Human tissue. - Stock Image C024/3629
Cardiovascular diseases remain a significant cause of morbidity and mortality in developed countries. The amyloidoses are an important group of systemic diseases that cause substantial cardiac impairment. Recently there have been advances in the manner in which these diseases are diagnosed, classified, and treated. Topics to be covered in this session included amyloid subtyping techniques including mass spectrometry, classification of the amyloidoses including new and rare forms of amyloid, the state of the art use of protein folding inhibitors to treat amyloidosis, and the results obtained from an a new international consortium for performing cardiac transplantation coupled with stem cell transplantation to treat immunoglobulin light chain amyloidosis. The session will be capped by Dr. Michael Fishbein, the recipient of the SCVP Distinguished Achievement Award, speaking on arteriosclerosis. In addition, there will be a portion of the session devoted to short presentations by a selected subset ...
The concluding paragraph of this abstract ends with this sentence: "DNA analysis is therefore mandatory, regardless of family history, in all patients with renal amyloidosis with selective glomerular involvement, in whom AA or AL fibril type cannot be definitively confirmed." In other words, the authors recommend that in cases where a kidney biopsy shows amyloid deposits primarily in the glomeruli, and AA or AL amyloidosis cannot be confirmed, DNA analysis should be done to look for fibrinogen mutations. That makes sense based on the biopsy findings that have been reported in all the cases up to this point. There are always deposits in the glomeruli, with occasional deposits elsewhere to a lesser extent. The amyloid often cannot be typed, even with immunohistochemistry. We dont need to look any further than Moms biopsy report to see an example of this. The diagnosis was amyloidosis, with this comment: "There is Lambda greater than Kappa staining but not significant enough to definitively state ...
Amyloidosis is varieties of conditions that creates normally soluble proteins to become insoluble and are deposited in various spaces in organs or tissues. Due to the improper deposition of these proteins, it disrupts normal body functions. The clumping together of this abnormal proteins are called amyloid deposits. Primary diagnosis of amyloidosis can lead to conditions such as carpal tunnel syndrome, heart muscle damage, intestinal malabsorption, liver swelling, kidney failure, nephrotic syndrome and nerve problems. In other cases, it may lead to orthostatic hypotension, which causes a drop in blood pressure when an invidual stands up. Please note that primary amyloidosis is extremely rare of a condition.
We identified amyloid derived from a mutant fibrinogen A alpha chain associated with one of the hereditary amyloidoses by kidney biopsy. The recognition of molecular and etiologic diversity among amyloidoses has revolutionized the management of systemic amyloidosis and necessitates precision in amyloid typing. Pitfalls and recommendations for the differential diagnosis of renal amyloid and current standards of amyloid typing are briefly discussed. Diagnosis of the amyloidosis type must be based on identification of the chemical composition of the amyloid protein in deposits and not on clinical suspicion, laboratory tests, or genetic testing. A clinical correlation is required to support but not make a diagnosis of amyloid type. If a hereditary form is detected by amyloid protein typing, then molecular studies are indicated. Conversely, in cases in which DNA sequence indicates a mutant amyloid precursor protein, protein analysis of the deposits must provide the definitive evidence. Negative or ...
Amyloidosis is characterized by proteinaceous deposits in extracellular tissue and is classified into five main groups: primary, secondary, localized, familial, and senile. Any of these may affect the lungs. Lung involvement may be any of three forms: tracheobronchial, nodular, or diffuse parenchymal. More than one type will not usually coexist. Tracheobronchial amyloidosis is most common and presents as multiple nodules protruding from the wall of the trachea or bronchi, possibly causing narrowing of the lumen. Diffuse parenchymal form (also called diffuse alveolar septal) can involve both lungs diffusely or regionally with interstitial small irregular densities which may become confluent or lead to honeycombing (CXR may also be normal). This form is least common but is most likely to cause respiratory failure (as with this patient). The nodular form usually occurs in patients over 60 y/o who are generally asymptomatic until the disease is extensive. Unlike the previously mentioned forms of ...
Results The time from the diagnosis of RA to the development of amyloidosis was 4 to 16 years, mean 8,7 years. In all patients advanced radiological changes were observed (radiological Steinbrocker stage III or IV).. The most common symptoms of amyloidosis were: proteinuria-27(62,8%), nephrotic syndrom -12(27,9%), diarrhoea-4(9,3%). In most of the patients the course of RA was very severe since the onset and high activity parameters were observed despite treatment.. Amyloidosis was histologically confirmed by subcutaneous fat tissue biopsy in 38(88,4%) cases. In 8 patients amyloid deposits were found in other organs (kidney, stomach, salivary gland).. After the treatment with cyclophosphamide or methotrexate we observed decrease of some activity parameters (ESR, CRP) and decrease of proteinuria level. The treatment was well tolerated and we didn?t observe serious side effects. In the observed group 7(16,3%) patients died after 3 to 6 years of the diagnosis of amyloidosis. The most common cause ...
Although the gold standard diagnostic tool for cardiac amyloidosis is endomyocardial biopsy (5), investigators have tried to assess this disease noninvasively with various imaging techniques. Although some molecular imaging-based methods have been successful (8,12), most of them have been unsuccessful for demonstrating amyloid deposits in the myocardium (13). The CMR has also been successful in the diagnosis of cardiac amyloidosis (14), but it may not be specific for amyloid deposits (15). Therefore, there is a clinical need to foster imaging-based diagnosis into clinical utility.. 11C-PiB has been used recently for early detection and for follow-up of Alzheimers dementia (16), a disease characterized by accumulation of β-amyloid plaque in the brain parenchyme. It is a radioactive derivative of benzothiazole that binds with conformational dependence to any type of β-amyloid sheet structure (7). Indeed, this has been demonstrated in various mouse models (17) and in human autopsy studies of the ...
Despite a number of in vitro studies of transthyretin (TTR) amyloidogenesis the early stage of in vivo amyloidogenesis in the human heart is largely unknown. A heart with a mild degree of cardiac amyloidosis removed from a 90-year old woman at autops
Sjögren’s syndrome, sarcoidosis and systemic immunoglobulin light chain amyloidosis all share common features when analyzed through salivary gland ultrasound, according to findings published in Arthritis Care & Research.“Ultrasound is becoming substantially more popular for imaging of salivary glands in the rheumatology community,” Eugene Kissin, MD, of Boston University
Long-term dialysis treatment is tough on the body in many ways, but one of the most serious complications is dialysis-related amyloidosis, a disease characterized by abnormal buildup of protein aggregates-called amyloid fibrils-in joints, tissues and organs.. Although there is no cure, recent research by Osaka University researchers sheds light on how amyloid fibrils form and aggregate, thereby allowing the identification of new therapeutic and preventive avenues to further improve the lives of sufferers.. In a study published in Proceedings of the National Academy of Sciences, Osaka University researchers have identified that polyphosphate (polyP), which is a naturally occurring polymer in the body and a food and drink additive, induces the formation of amyloid fibrils from β2 microglobulin proteins.. PolyPs play an important role in life as storage of phosphorous. When kidney function is normal, β2 microglobulin serum blood levels remain low. However, β2 microglobulin are not efficiently ...
Light-chain (AL) amyloidosis is the most common type of amyloidosis; cardiac involvement is rare but has a poor prognosis. Biventricular hypertrophic cardiomyopathy is an exceptional finding in amyloidosis and its association with obstructive right ventricular gradient is even rarer. We report the case of a male patient with biventricular hypertrophy suggesting amyloidosis, with an obstructive gradient in the right ventricle.. ...
Abstract This report describes two Egyptian patients who presented with the nephrotic syndrome and concurrent infections with Schistosoma mansoni and Salmonella paratyphi A. Unlike similar cases previously reported from this unit, these patients did not respond to antimicrobial and antischistosomal therapy, and their renal biopsies demonstrated amyloidosis. These two case reports and several experimental observations suggest that chronic schistosomiasis and salmonellosis may lead to secondary amyloidosis in susceptible individuals.
The objective of our study was to describe a combination of features on MRI specific to cardiac amyloidosis. Cardiac amyloidosis is a common cause of infiltrative heart disease. The combination of subtle widespread heterogeneous myocardial enha
MalaCards based summary : Amyloidosis Nodular Localized Cutaneous, also known as amyloidosis cutis nodularis atrophicans, is related to amyloidosis and al amyloidosis. Affiliated tissues include lung, smooth muscle and testes ...
To our knowledge, this is the first assessment of 99mTc-DPD scintigraphy as a potential diagnostic tool for assessment of etiology in cardiac amyloidosis. Our findings could have potential clinical implications (especially in the light of recent therapeutic advances), and they also could help clarify the conflicting data in published reports on the use of bone tracers in the scintigraphic evaluation of amyloidosis.. Noninvasive detection of amyloid has been investigated using three main groups of radiolabeled tracers: 123I-labeled serum amyloid P protein (26,27); aprotinin (28,29); and bone tracers, mainly 99mTc-pyrophosphate (9-15) and 99mTc-HDP (20,21). Labeled serum amyloid P protein localizes rapidly and specifically to amyloid deposits (in proportion to the amount of amyloid) and persists there, allowing quantitative monitoring of amyloid deposition and regression during therapy (low quality of heart visualization and limited availability are current limitations of this tracer [12,13]). ...
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Concepts and semantics are crucial for good communication between clinicians and pathologists. Amyloidosis was described more than 150 years ago. Therefore, the terminology related to it is abundant, varied, and sometimes complex. In this report, we intend to discuss several terms related to the disease, with special emphasis on cutaneous amyloidosis. We present a review, from Virchow to present, of the concepts related to amyloidosis: its nature, the classification of cutaneous forms of the disease, and the techniques used in its diagnosis.
High fat/high cholesterol diets exacerbate β-amyloidosis in mouse models of Alzheimers disease (AD). It has been impossible, however, to study the relationship between atherosclerosis and β-amyloidosis; in those models because such mice were on atherosclerosis-resistant genetic backgrounds. Here we report the establishment of AD model mice, B6Tg2576, that are prone to atherosclerosis. B6Tg2576 mice were produced by back-crossing Tg2576 mice, an AD mouse model overexpressing human amyloid β-protein precursor with the Swedish double mutation, to C57BL/6 mice, a strain susceptible to diet-induced atherosclerosis. An atherogenic diet induced aortic atherosclerosis and exacerbated cerebral β-amyloidosis in B6Tg2576 mice. Compared with age-matched non-transgenic littermates, B6Tg2576 mice developed significantly more diet-induced aortic atherosclerosis. Unexpectedly, normal diet-fed B6Tg2576 mice also developed fatty streak lesions (early atherosclerosis) in the aorta. The aortic atherosclerotic ...
We found a fresh C-terminal amyloidogenic variant of apolipoprotein AI (apoAI), Leu178His inside a People from france kindred, associated with cardiac and larynx amyloidosis and skin lesions with onset during the fourth decade. plasma TTR circulates in plasma bound to high-density lipoprotein and that this interaction happens through binding to apoAI. Consequently we hypothesize that nonmutated TTR might influence deposition of apoAI as amyloid. Hereditary amyloidosis is definitely a group of late-onset autosomal dominating diseases with amyloid deposition in various cells. 1 Although a few, such as Alzheimers disease, give rise to localized disorders, most forms of amyloidosis have systemic distribution. The most frequent form of systemic hereditary amyloidosis is definitely associated with variant forms of transthyretin (TTR) 2 and causes both neuropathies and cardiomyopathies. Several other GW-786034 proteins will also be responsible for varied clinical forms of hereditary amyloidosis: ...
Twenty-eight patients with cardiac amyloidosis were studied by echocardiography -- 26 by M-mode and 13 by two-dimensional (2D) studies. All had heart failure and biopsy-proved amyloidosis, M-mode features included (1) normal left ventricular (LV) dimension in all; (2) thickened ventricular septum (88%), LV posterior wall (77%), and right ventricular (RV) anterior wall (79%); (3) decreased thickening of ventricular septum (96%) and of LV posterior wall (65%) and reduced LV global function (62%); (4) left atrial enlargement (50%); and (5) pericardial effusion (58%). Two-dimensional echocardiography provided additional features: (1) thickened papillary muscles (five of 13); (2) thickened valves (four of 13); (3) better appreciation of thickened RV wall; and (4) a characteristic "granular sparkling" appearance of thickened cardiac walls -- presumably secondary to the amyloid deposit -- which was noted in 12 of 13 patients. Thus, M-mode echocardiography is helpful in the recognition of cardiac ...
Two patients with muscle weakness caused by amyloid myopathy are described. Characteristic features such as pseudohypertrophy and abnormal firmness, and tumours of muscles were absent. It is suggested that muscle weakness in amyloid myopathy is caused by layers of amyloid covering muscle fibres. In middle aged or elderly patients with proximal muscle weakness the diagnosis of amyloid myopathy should be considered.. ...
Hultgren, M K.; Druet, R L.; and Janigan, D T., "Experimental amyloidosis in isogeneic x-irradiated recipients of sensitized spleen tissue." (1967). Subject Strain Bibliography 1967. 481 ...
New study done at the Federal University of Rio de Janeiro, in Brazil reveals that amyloid fibers are caught in a cellular trap, with devastating consequences for amyloidosis patients. The studys results have clear implications for the etiology of amyloidosis, an often-deadly disease against which little progress has been made in recent years.
TTR-FAP is a rare autosomal dominant disorder caused by mutations of the TTR gene with variable penetration. More than 100 different mutations of TTR have been identified worldwide, but the first-described Val30Met mutation remains the most common. The prevalence of different mutations varies according to ethnicity and geographic region. As a rare disease, the European prevalence of amyloidosis (including secondary amyloidosis) was estimated at 47/100000 in 2014. In particular regions of Portugal and Sweden where TTR-FAP is endemic, disease prevalence ranges from 1 in 1000 to 1 in 10 000 people. Smaller endemic foci have also been identified in Cyprus and Majorca. According to data derived from the ATTReuNET questionnaire, Portugal has the highest number of diagnosed, symptomatic cases (~2000) and more than 500 diagnosed asymptomatic carriers of the disease. The gene carrier frequency for Val30Met in the northern parts of Sweden has been recently estimated at 2% . However, the penetrance is low ...
In cardiac amyloidosis, myocardial tissue histology reveals among its salient features, the expansion of the extracellular space, the accumulation of amyloid protein, and collagen fiber deposition. At the cellular level, cytoplasmic vacuolization and decline of myofibrils are commonly seen in endomyocardial biopsies from amyloid patients. There is evidence that human amyloidogenic light (AL) chain proteins have a cardiotoxic effect (1), which is associated with impaired cardiomyocyte contractile function and increased cell death. Of similar relevance for transthyretin-related amyloidosis (ATTR) is the fact that transthyretin (TTR) also has a cytotoxic effect (2), causing increased inflammatory and oxidative stress. How well cardiac magnetic resonance (CMR) can identify various aspects of pathological tissue remodeling in cardiac amyloidosis remains a question of intense research interest.. Over the last decade, CMR has identified a series of promising image-based markers tied to cardiomyopathic ...
Amyloidosis is a group of diseases that result from the extracellular deposition of amyloid, a fibrillar material derived from various precursor proteins that self-assemble with highly ordered abnormal cross β-sheet conformation (7). Amyloidosis is a multiorgan disease, that results in nonspecific symptoms, including dyspnea, weight loss, edema, proteinuria, bleeding tendency, orthostatic hypotension, and other features of autonomic or peripheral neuropathy. Cardiac involvement is the major determinant of survival. Deposition of amyloid fibrils in the extracellular space causes separation and distortion of the existing tissues and eventually causes irreversible cardiac dysfunction. This may occur in the myocardium, pericardium, small vessels and conduction system (20). When the myocardium is primarily affected, the ventricles may become stiff, leading to restrictive cardiomyopathy. The stiff ventricles may impair ventricular filling during diastole, leading to a clinical presentation of ...
These guidelines provide guidance on the management of patients with AL amyloidosis. The guideline discusses the principles of treating a patient with AL amyloidosis and provides recommendations and details for treatments (including stem cell transplantation) both at diagnosis and relapse. Monitoring of treatment and definitions of response are discussed. These guidelines also make recommendations for supportive care. ...
Transthyretin (TTR) amyloidoses are familial or sporadic degenerative conditions that often feature heavy cardiac involvement. Presently, no effective pharmacological therapy for TTR amyloidoses is available, mostly due to a substantial lack of knowledge about both the molecular mechanisms of TTR aggregation in tissue and the ensuing functional and viability modifications that occur in aggregate-exposed cells. TTR amyloidoses are of particular interest regarding the relation between functional and viability impairment in aggregate-exposed excitable cells such as peripheral neurons and cardiomyocytes. In particular, the latter cells provide an opportunity to investigate in parallel the electrophysiological and biochemical modifications that take place when the cells are exposed for various lengths of time to variously aggregated wild-type TTR, a condition that characterizes senile systemic amyloidosis. In this study, we investigated biochemical and electrophysiological modifications in ...
• A case of localized nodular cutaneous amyloidosis involving the vulva occurred in a 53-year-old woman. This rare type of cutaneous amyloidosis has been report
Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. {ECO:0000269,PubMed:10036587, ECO:0000269,PubMed:10071047, ECO:0000269,PubMed:10211412, ECO:0000269,PubMed:10436378, ECO:0000269,PubMed:10439117, ECO:0000269,PubMed:10611950, ...
Boston Medical Center, Medicine Division: Hematology-Oncology. My work, which began as a graduate student in Dr. David Seldins laboratory at Boston University School of Medicine, has been focused on developing models of AL (light chain) amyloidosis and using these models to test potential therapies. Now that there are effective treatments to stop or stabilize the production of the amyloidogenic protein, such as preventing the production of light chains by targeting the plasma cells, there still remains a burden of amyloid fibrils already deposited in the body. I developed a transgenic mouse that has an amyloidogenic human Lambda 6 Light Chain in its blood and deposits amyloid fibrils in the stomach with age. Tetracycline antibiotics (like doxycycline) have been shown to disrupt amyloid fibrils and prevent fibril formation in mice for transgenic for transthyretin (TTR) in Dr. Saraivas laboratory and in models of Alzheimers disease. I treated the young AL transgenic mice with doxycycline in ...
Amyloidosis is a term for diseases that share a common feature: the extracellular deposition of amyloid fibrils, that consist of a single protein prone to aggregate. Polysaccharides (glycos-aminoglycans), especially heparan sulfate, are significant components of all types of amyloid deposits. Arising from numerous modifications during biosynthesis, heparan sulfate is characterized by extensive structural variability that affects interactions with various proteins and thus influences important biological functions. The aim of this study was to characterize heparan sulfate from Alzheimer lesions in cerebral cortex and from amyloidotic liver and spleen following inflammation-associated amyloidosis. We wanted to determine whether Alzheimers disease is associated with structural changes in heparan sulfate that could possibly affect the interaction with the amyloid β-peptide, the main constituent of amyloid deposits in brain. Amyloid laden liver and spleen showed a substantial increase in heparan ...
Reactive systemic amyloidosis information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues.
The larynx is a rare site of involvement of amyloidosis. We report two cases of laryngeal amyloidosis. Both patients were middle aged females with history of persistent hoarseness. Fibreoptic laryngoscopy used for diagnosis in both and debulking of the tumour was performed. Histopathological examination confirmed the diagnosis of amyloidosis. Appropriate follow up is an important part of the long-term management of the disease.
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We describe a case of fatal systemic amyloidosis presenting with mucocutaneous bullous lesions in a patient with IgA κ monoclonal gammopathy. The amyloid plaques were composed of an unusual mixture of immunoglobulin κ light chain and amyloid A proteins. Whereas oesophageal and oropharyngeal blisters are known to occur in several types of bullous dermatoses, to our knowledge this is the first report of oesophagopharyngeal blisters complicating bullous amyloidosis ...
Mortality from hereditary cerebral haemorrhage with amyloidosis, Dutch type : the impact of sex, parental transmission and year of birth ...
p,,b,BACKGROUND: ,/b,Aortic stenosis (AS) and transthyretin cardiac amyloidosis (TTR-CA) are both frequent in elderly. The combination of these two diseases has never been investigated.,/p,,p,,b,AIMS: ,/b,To describe patients with concomitant AS and TTR-CA.,/p,,p,,b,METHODS: ,/b,Six cardiologic French centres identified retrospectively cases of patients with severe or moderate AS associated with TTR-CA hospitalized during the last 6 years.,/p,,p,,b,RESULTS: ,/b,Sixteen patients were included. Mean ± SD age was 79 ± 6 years, 81% were men. Sixty per cent were NYHA III-IV, 31% had carpal tunnel syndrome, and 56% had atrial fibrillation. Median (Q1;Q4) NT-proBNP was 4382 (2425;4730) pg/mL and 91% had elevated cardiac troponin level. Eighty-eight per cent had severe AS (n = 14/16), of whom 86% (n = 12) had low-gradient AS. Mean ± SD interventricular septum thickness was 18 ± 4 mm. Mean left ventricular ejection fraction and global LS were 50 ± 13% and -7 ± 4%, respectively. Diagnosis of TTR-CA ...
Looking for online definition of amyloid light chain protein in the Medical Dictionary? amyloid light chain protein explanation free. What is amyloid light chain protein? Meaning of amyloid light chain protein medical term. What does amyloid light chain protein mean?
Background: Immunoglobulin free light chains (FLC) form the substrate for synthesis of amyloid fibrils in patients with AL amyloidosis. Development of FLC assay (Freelite) has allowed us to better assess the clonal cell burden in patients with AL amyloid. The relationship of the light chain types and their levels in serum to the clinical feature at presentation and the eventual outcome has not been systematically studied.. Methods: We identified 730 patients with biopsy proven AL amyloidosis, who were seen at Mayo Clinic between January 1980 and July 2006, who were seen within 90 days of their diagnosis and in whom FLC levels were performed or had stored serum available for analysis. Cardiac biomarkers (cTnT, NT ProBNP) were also performed on stored serum for some of the patients as part of previous studies. Clinical data and follow up status are prospectively collected into the Dysproteinemia database, which was used for the study.. Results: The median age of the study population was 63 years ...
Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014. Summary. Global Markets Direct s, Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014, provides an overview of the indication s therapeutic pipeline. This report provides information on the therapeutic development for Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease), complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease). Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, Half Year is built using data and information sourced from Global Markets Direct s proprietary databases, Company/University websites, SEC filings, investor ...
Transthyretin (TTR) is a homotetrameric serum protein associated with amyloidoses such as familial amyloid polyneuropathy and senile systemic amyloidosis. The amyloid fibril formation of TTR can be inhibited through stabilization of the TTR tetramer by the binding of small molecules. In this study, we examined the inhibitory potency of caffeic acid phenethyl ester (CAPE) and its derivatives. Thioflavin T assay showed that CAPE suppressed the amyloid fibril formation of TTR. Comparative analysis of the inhibitory potencies revealed that phenethyl ferulate was the most potent among the CAPE derivatives. The binding of phenethyl ferulate and the selected compounds to TTR were confirmed by the 8-anilino-1-naphthalenesulfonic acid displacement and X-ray crystallography. It was also demonstrated that Bio 30, which is a CAPE-rich commercially available New Zealand propolis, inhibited ...
Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especia
This unique book focuses on the non-myeloma plasma cell dyscrasias. A key resource for this group of diseases, the book features the latest in emerging knowledge and therapeutic developments, including novel therapies. Each disease-specific chapter discusses biology, disease course, and appropriate therapeutic interventions, covering plasma cell leukemia, plasmacytoma, POEMS Syndrome and Castlemans Disease, Waldenstrom macroglobulinemia, immunoglobin deposition disease, and cryoglobulinemic syndromes, among others. The only book dedicated to this intriguing family of diseases, Biology and Management of Unusual Plasma Cell Dyscrasias will be a long-lasting reference for clinicians and scientists alike.. ...
TY - JOUR. T1 - A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis. T2 - Therapeutic efficacy of proton pump inhibitors. AU - Bertoni, Arinna. AU - Carta, Sonia. AU - Baldovini, Chiara. AU - Penco, Federica. AU - Balza, Enrica. AU - Borghini, Silvia. AU - Di Duca, Marco. AU - Ognio, Emanuela. AU - Signori, Alessio. AU - Nozza, Paolo. AU - Schena, Francesca. AU - Castellani, Patrizia. AU - Pastorino, Claudia. AU - Perrone, Carola. AU - Obici, Laura. AU - Martini, Alberto. AU - Ceccherini, Isabella. AU - Gattorno, Marco. AU - Rubartelli, Anna. AU - Chiesa, Sabrina. PY - 2019/1/1. Y1 - 2019/1/1. N2 - Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function mutations in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene, which cause uncontrolled IL-1β secretion. Proton pump inhibitors (PPIs), which are commonly used as inhibitors of gastric acid production, ...
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairment. The cornea is made up of several layers of tissue, and in lattice corneal dystrophy type I, the deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern.. Affected individuals often have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Lattice corneal dystrophy type I is usually bilateral, which means it affects both eyes. The condition becomes apparent in childhood or adolescence and leads to vision problems by early adulthood. ...
OBJECTIVE: To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS: In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS: Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh ...

Hereditary amyloidosis - Symptoms, Treatments and Resources for Hereditary amyloidosisHereditary amyloidosis - Symptoms, Treatments and Resources for Hereditary amyloidosis

Find Hereditary amyloidosis information, treatments for Hereditary amyloidosis and Hereditary amyloidosis symptoms. ... MedHelps Hereditary amyloidosis Center for Information, Symptoms, Resources, Treatments and Tools for Hereditary amyloidosis. ... amyloidosis, I have it, WHAT STAGE AM I AT IF I HAVE ICHING AND RASHES? ... Hello, Im a 22yr old female I have just been diagnosed with Amyloidosis, the type is to be... ...
more infohttps://www.medhelp.org/tags/show/18267/Hereditary-amyloidosis

Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino De Andrades Disease) - Pipeline Review, H1 2014 | Feb 14,...Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino De Andrade's Disease) - Pipeline Review, H1 2014 | Feb 14,...

Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014 market report to its offering Familial ... Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014 ... Transthyretin Amyloidosis, Corino de Andrades Disease). Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de ... Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014. Summary. ...
more infohttp://www.sbwire.com/press-releases/familial-amyloid-polyneuropathy-transthyretin-amyloidosis-corino-de-andrades-disease-pipeline-review-h1-2014-460942.htm

Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014- CFDMaster...Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrade's Disease) - Pipeline Review, H1 2014- CFDMaster...

Transthyretin Amyloidosis, Corino de Andrades Disease). Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de ... Mar 18, 2013: Alnylam Initiates Phase I Clinical Study For ALN-TTRsc For Treatment Of TTR-Mediated Amyloidosis 58. Feb 19, 2013 ... CFD Master › Market Research › Global Markets Direct › Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de ... Coverage of the Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) pipeline on the basis ...
more infohttp://au.cfdmaster.com/familial-amyloid-polyneuropathy-transthyretin-amyloidosis-corino-de-andrades-disease-pipeline-review-h1-2014-3-20140131/

Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas |...Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas |...

ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces ... Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal ... 2018). Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. New England Journal of Medicine, 379(1), 11-21 ... 2018). Inotersen treatment for patients with hereditary transthyretin amyloidosis. New England Journal of Medicine, 379(1), 22- ...
more infohttps://neurolrespract.biomedcentral.com/articles/10.1186/s42466-019-0035-z

Familial Mediterranean Fever: an unusual cause of liver disease | Italian Journal of Pediatrics | Full TextFamilial Mediterranean Fever: an unusual cause of liver disease | Italian Journal of Pediatrics | Full Text

... for this patient could be the optimal choice to minimize the inflammatory state and to control the risk of amyloidosis, ...
more infohttps://ijponline.biomedcentral.com/articles/10.1186/s13052-019-0712-0

Tracheobronchopathia Osteochondroplastica in a Patient with LeukoplakiaTracheobronchopathia Osteochondroplastica in a Patient with Leukoplakia

... and posterior wall involvement of the trachea increases suspicion for other disease pathologies including amyloidosis, ...
more infohttp://www.clinicsinsurgery.com/full-text/cis-v1-id1071.php

hATTR BridgehATTR Bridge

Learn about how hereditary ATTR amyloidosis can affect your nervous system, heart, and gastrointestinal system and ways you can ... A family living with hATTR amyloidosis Connect with a world of information The Bridge™ is a program designed to help raise ... About hATTR amyloidosis. Learn how the condition occurs,. what symptoms may be experienced,. and how the condition can affect ... You are now leaving The Bridge™ for hATTR amyloidosis. Links to all outside sites are provided as a reference for our visitors ...
more infohttps://hattrbridge.com/

Cardiac amyloidosis - WikipediaCardiac amyloidosis - Wikipedia

Cardiac amyloidosis is a subcategory of amyloidosis where there is the depositing of the protein amyloid in the cardiac muscle ... For light-chain amyloidosis, the use of FLC assays and NT-proBNP levels can be used to monitor the progression of amyloidosis ... The general cause of cardiac amyloidosis is misfolding of a specific protein precursor depending on the amyloidosis type. ... Presence of the monoclonal band would be consistent with light chain amyloidosis. For light chain amyloidosis, serum ...
more infohttps://en.wikipedia.org/wiki/Cardiac_amyloidosis

Amyloidosis | SpringerLinkAmyloidosis | SpringerLink

The term amyloidosis refers to a family of heterogeneous diseases characterized by extracellular deposition of an abnormal ... Amyloidosis: pathogenesis and new therapeutic options. J Clin Oncol Off J Am Soc Clin Oncol. 2011;29(14):1924-33.CrossRefGoogle ... Amyloidosis: a clinical overview. Rheum Dis Clin N Am. 2013 May;39(2):323-45.CrossRefGoogle Scholar ... AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum. 2013;65(4):1116-21.CrossRefGoogle Scholar ...
more infohttps://link.springer.com/chapter/10.1007%2F978-3-319-96929-9_22

Amyloidosis: MedlinePlusAmyloidosis: MedlinePlus

Amyloidosis is a rare condition that can affect different organs of the body. Find out about amyloidosis treatment and symptoms ... Primary amyloidosis (Medical Encyclopedia) Also in Spanish * Secondary systemic amyloidosis (Medical Encyclopedia) Also in ... Amyloidosis (Mayo Foundation for Medical Education and Research) Also in Spanish * Amyloidosis and Kidney Disease (National ... AL Amyloidosis and Agent Orange (Department of Veterans Affairs) * General Information about Plasma Cell Neoplasms (Including ...
more infohttps://medlineplus.gov/amyloidosis.html

amyloidosisamyloidosis

... is an uncommon disease in which a substance called amyloid, composed of fibrous protein, accumulates in tissues and ... Causes of amyloidosis. Amyloidosis may occur for no known reason, when it is called primary; more commonly, it is a ... amyloidosis. Amyloidosis is an uncommon disease in which a substance called amyloid, composed of fibrous protein, accumulates ... Primary amyloidosis is often characterized by deposits of amyloid in the skin. Slightly raised, waxy spots appear, usually ...
more infohttp://www.daviddarling.info/encyclopedia/A/amyloidosis.html

Donate | Amyloidosis CenterDonate | Amyloidosis Center

Amyloidosis Patient Spotlight: Miles of Gratitude. ASH 2017 Highlights: AL Amyloidosis Takes Center Stage. Save the Date: Live ... Amyloidosis Center Faculty Among Top Docs in Boston Magazines Annual List for 2017. House and Senate Language on Amyloidosis. ... If you are interested in supporting the Amyloidosis Centers endowment, in the Comments section on the online donation page or ... If you would like more information on supporting amyloidosis research, on making a bequest, or on other planned giving ...
more infohttp://www.bu.edu/amyloid/donate/

Amyloidosis | CirculationAmyloidosis | Circulation

Familial amyloidosis must also be distinguished from AL or senile cardiac amyloidosis because hereditary amyloidosis may not ... The most common cause of amyloidosis in this clinical setting is primary amyloidosis. There are no distinguishing clinical or ... No specific therapy exists for senile cardiac amyloidosis. The clinician usually suspects primary amyloidosis and searches for ... Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin Proc. 1991;67:428- ...
more infohttp://circ.ahajournals.org/content/91/4/1269.full

AmyloidosisAmyloidosis

In this most common type of amyloidosis, mutations lead to misfolding an... ... presented an overview of recent developments in the diagnosis and outcome of AL amyloidosis. ... Amyloidosis. Jul 16 2018 In the plenary session on Sunday Professor Giampaolo Merlini (University of Pavia, Italy) presented an ... Merlini described an algorithm for the diagnosis of systemic amyloidosis, based on the combined use of biomarkers and imaging. ...
more infohttps://ehaweb.org/congress/reports/eha23-report/topics-discussed/lymphoid-malignancies/amyloidosis/

Amyloidosis Types | Amyloidosis CenterAmyloidosis Types | Amyloidosis Center

Amyloidosis Types. The systemic amyloidosis types are all very different from each other with respect to the biochemical nature ... Other familial amyloidoses. There are other gene mutations that produce proteins that cause amyloidosis. These are very rare. ... Secondary Amyloidosis (AA). Secondary amyloidosis is caused by a chronic infection or an inflammatory disease such as ... Localized Amyloidosis (ALoc). There are many types of localized amyloidoses. Localized amyloid deposits in the airway (trachea ...
more infohttps://www.bu.edu/amyloid/what/types/

Renal amyloidosis | pathology | Britannica.comRenal amyloidosis | pathology | Britannica.com

... these include renal amyloidosis (abnormal deposits in the kidney of a complex protein substance called amyloid), whose causes ... Other articles where Renal amyloidosis is discussed: renal system disease: Chronic renal failure: …of their reversibility; ... of their reversibility; these include renal amyloidosis (abnormal deposits in the kidney of a complex protein substance called ...
more infohttps://www.britannica.com/science/renal-amyloidosis

What is fibrinogen amyloidosis (AFib)?What is fibrinogen amyloidosis (AFib)?

... is an autosomal dominant amyloidosis caused by point mutations in the fibrinogen alpha chain gene. If DNA sequences indicate a ... Fibrinogen amyloidosis (AFib) is an autosomal dominant amyloidosis caused by point mutations in the fibrinogen alpha chain gene ... encoded search term (What is fibrinogen amyloidosis (AFib)?) and What is fibrinogen amyloidosis (AFib)? What to Read Next on ... Gonzalez-Duarte A. Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res. 2018 Mar ...
more infohttps://www.medscape.com/answers/335414-105999/what-is-fibrinogen-amyloidosis-afib

Primary amyloidosis: MedlinePlus Medical EncyclopediaPrimary amyloidosis: MedlinePlus Medical Encyclopedia

Primary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal ... Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: ... Primary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal ... Amyloidosis. In: Hochberg MC, Gravallese EM, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology. 7th ed. ...
more infohttps://medlineplus.gov/ency/article/000533.htm

Lichen amyloidosis | DailyStrengthLichen amyloidosis | DailyStrength

I have lichen amyloidosis. This started off as itching all over my body when I was 11 years old. The constant itching lead to ... Amyloidosis Support Group. Primary amyloidosis occurs when the bodys antibody-producing cells do not function properly and ... You should get tested for systemic amyloidosis if you havent already. Supposedly, the skin amyloidosis can spread to the ... I have Amyloidosis on my legs and arms and some spots on my back. I also have a spot near my breasts on the upper torso and ...
more infohttps://www.dailystrength.org/group/amyloidosis/discussion/lichen-amyloidosis

Cardiac Amyloidosis Differential DiagnosesCardiac Amyloidosis Differential Diagnoses

Cardiac amyloidosis is a clinical disorder caused by extracellular deposition of insoluble fibrils (approximately 7.5-10 nm ... encoded search term (Cardiac Amyloidosis) and Cardiac Amyloidosis What to Read Next on Medscape. Related Conditions and ... Cardiac Amyloidosis Differential Diagnoses. Updated: May 09, 2019 * Author: Gyanendra K Sharma, MD, FACC, FASE; Chief Editor: ... Cytawa W, Teodorczyk J, Lass P. Nuclear imaging of amyloidosis. Pol J Radiol. 2014 Jul 24. 79:222-7. [Medline]. [Full Text]. ...
more infohttps://emedicine.medscape.com/article/1967220-differential

Familial amyloidosis definition | Drugs.comFamilial amyloidosis definition | Drugs.com

Definition of familial amyloidosis. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and ...
more infohttps://www.drugs.com/dict/familial-amyloidosis.html

Focal amyloidosis definition | Drugs.comFocal amyloidosis definition | Drugs.com

Definition of focal amyloidosis. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions ... Synonym(s): nodular amyloidosis. Further information. Always consult your healthcare provider to ensure the information ...
more infohttps://www.drugs.com/dict/focal-amyloidosis.html

Amyloidosis: Symptoms, Treatment, and MoreAmyloidosis: Symptoms, Treatment, and More

Amyloidosis is a rare condition that causes an abnormal protein called amyloid to build up in the body. Heres what you need to ... What is amyloidosis?. Amyloidosis is a condition that causes an abnormal protein called amyloid to build up in your body. ... AL amyloidosis. This type is treated with chemotherapy. These drugs are usually used to treat cancer, but in amyloidosis they ... 8 Ways Amyloidosis Affects the Body. Amyloidosis is a condition that affects various body tissues and organs. Here are eight ...
more infohttps://www.healthline.com/health/amyloidosis

What is cystatin C amyloidosis (ACys)?What is cystatin C amyloidosis (ACys)?

The precursor protein in cystatin C amyloidosis (ACys) is cystatin C, which is a cysteine protease inhibitor that contains a ... encoded search term (What is cystatin C amyloidosis (ACys)?) and What is cystatin C amyloidosis (ACys)? What to Read Next on ... Gonzalez-Duarte A. Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res. 2018 Mar ... Amyloidosis and end-stage renal disease associated with leprosy]. Rev Soc Bras Med Trop. 2010 Jul-Aug. 43(4):474-6. [Medline]. ...
more infohttps://www.medscape.com/answers/335414-106004/what-is-cystatin-c-amyloidosis-acys

8 Natural Therapies for Amyloidosis8 Natural Therapies for Amyloidosis

Treatment for amyloidosis doesnt have to stop with conventional medicine. Movement, sleep therapy, and a modified diet are ... What Is Amyloidosis and How Is It Treated?. Amyloidosis is a rare condition that causes an abnormal protein called amyloid to ... For cardiac amyloidosis, the National Amyloidosis Centre recommends no more than one and a half liters of fluids per day. This ... 8 Ways Amyloidosis Affects the Body. Amyloidosis is a condition that affects various body tissues and organs. Here are eight ...
more infohttps://www.healthline.com/health/amyloidosis/natural-therapies-for-amyloidosis
  • An M protein in the serum or urine or monoclonal plasma cells in the bone marrow are found in 98% of patients with AL amyloidosis. (ahajournals.org)
  • Primary amyloidosis is an acquired plasma cell disorder in which a monoclonal immunoglobulin light chain is produced in the bone marrow and usually found in the blood or urine. (bu.edu)
  • The most common form of amyloidosis in the United States is primary amyloid, states the University of California San Francisco Medical Center. (reference.com)
  • These are vital for support of our mission to find a cure for amyloidosis. (bu.edu)
  • There's no cure for amyloidosis. (mayoclinic.org)
  • People with amyloidosis do not get central nervous system involvement but can develop sensory and autonomic neuropathies. (wikipedia.org)
  • Splenic dysfunction, leading to the presence of Howell-Jolly bodies on blood smear, occurs in 24% of people with amyloidosis. (wikipedia.org)
  • Some people with amyloidosis experience purpura - a condition in which small blood vessels leak blood into the skin, causing purplish patches. (mayoclinic.org)
  • Anyone can develop amyloidosis. (mayoclinic.org)
  • however, only a small percentage of animals with chronic inflammatory conditions develop amyloidosis, thus, other factors must also be important in the development of amyloidosis. (petplace.com)
  • The symptoms and signs of amyloidosis vary, depending on which part of the body is involved. (daviddarling.info)
  • In its early stages, amyloidosis might not cause symptoms. (healthline.com)
  • It's important to tell your doctor as much as you can, because amyloidosis symptoms can be similar to those of other conditions. (healthline.com)
  • You may not experience signs and symptoms of amyloidosis until the condition is advanced. (mayoclinic.org)
  • See your doctor if you persistently experience any of the signs or symptoms associated with amyloidosis. (mayoclinic.org)
  • About half of people with AA amyloidosis have rheumatoid arthritis . (healthline.com)
  • Amyloidosis: a clinical overview. (springer.com)
  • Primary (AL) hepatic amyloidosis: clinical features and natural history in 98 patients. (springer.com)
  • The key to diagnosing patients with amyloidosis is having a high degree of clinical suspicion in the setting of multisystem disease, particularly when typical amyloidosis syndromes are present. (oncologynurseadvisor.com)
  • If another underlying cause of the clinical syndromes described above cannot be identified, a work-up for amyloidosis should be initiated. (oncologynurseadvisor.com)
  • However, some imaging modalities may suggest amyloidosis in the correct clinical setting. (oncologynurseadvisor.com)
  • Having an infection or inflammatory disease makes you more likely to get AA amyloidosis. (healthline.com)
  • Having a chronic infectious or inflammatory disease increases your risk of AA amyloidosis. (mayoclinic.org)
  • An enlarged tongue (macroglossia) can be a sign of amyloidosis. (mayoclinic.org)
  • Beta-2 microglobulin amyloidosis is caused by chronic renal failure and often occurs in patients who are on dialysis for many years. (bu.edu)
  • AL amyloidosis occurs in about 3-13 per million people per year and AA amyloidosis in about 2 per million people per year. (wikipedia.org)
  • Amyloidosis (am-uh-loi-DO-sis) is a rare disease that occurs when a substance called amyloid builds up in your organs. (mayoclinic.org)
  • Most people diagnosed with AL amyloidosis, the most common type, are between ages 60 and 70, although earlier onset occurs. (mayoclinic.org)
  • Kisilevsky R. The relation of proteoglycans, serum amyloid P and apo E to amyloidosis current status, 2000. (springer.com)
  • Gertz MA, Lacy MQ, Dispenzieri A. Amyloidosis. (medscape.com)
  • Bunker D, Gorevic P. AA amyloidosis: Mount Sinai experience, 1997-2012. (springer.com)
  • More than 100 different mutations in transthyretin are known and most cause amyloidosis. (bu.edu)
  • Fibrinogen amyloidosis (AFib) is an autosomal dominant amyloidosis caused by point mutations in the fibrinogen alpha chain gene. (medscape.com)
  • Amyloidosis presents with ventricle and valvular thickening, biatrial enlargement, restrictive filling pattern, with normal to mildly reduced systolic function and decreased diastolic filling . (wikipedia.org)
  • Symptomatic ischemic heart disease resulting from obstructive intramural coronary amyloidosis. (medscape.com)