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.
Diseases in which there is a familial pattern of AMYLOIDOSIS.
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.
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.
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.
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.
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.
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)
An acid dye used in testing for hydrochloric acid in gastric contents. It is also used histologically to test for AMYLOIDOSIS.
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.
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).
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.
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.
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.
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 diseases refer to a range of medical conditions that affect the structure, function, and integrity of the trachea, including inflammation, infection, trauma, tumors, and congenital abnormalities, which can lead to symptoms such as cough, wheezing, difficulty breathing, and stridor.
Pathological processes of the KIDNEY or its component tissues.
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)
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.
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.
An abnormal protein with unusual thermosolubility characteristics that is found in the urine of patients with MULTIPLE MYELOMA.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
A genus of long-legged, swift-moving felines (FELIDAE) from Africa (and formerly Asia) about the size of a small leopard.
One of the types of light chain subunits of the immunoglobulins with a molecular weight of approximately 22 kDa.
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.
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.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
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.
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)

Amyloidosis is a medical condition characterized by the abnormal accumulation of insoluble proteins called amyloid in various tissues and organs throughout the body. These misfolded protein deposits can disrupt the normal function of affected organs, leading to a range of symptoms depending on the location and extent of the amyloid deposition.

There are different types of amyloidosis, classified based on the specific proteins involved:

1. Primary (AL) Amyloidosis: This is the most common form, accounting for around 80% of cases. It results from the overproduction and misfolding of immunoglobulin light chains, typically by clonal plasma cells in the bone marrow. The amyloid deposits can affect various organs, including the heart, kidneys, liver, and nervous system.
2. Secondary (AA) Amyloidosis: This form is associated with chronic inflammatory diseases, such as rheumatoid arthritis, tuberculosis, or familial Mediterranean fever. The amyloid fibrils are composed of serum amyloid A protein (SAA), an acute-phase reactant produced during the inflammatory response. The kidneys are commonly affected in this type of amyloidosis.
3. Hereditary or Familial Amyloidosis: These forms are caused by genetic mutations that result in the production of abnormal proteins prone to misfolding and amyloid formation. Examples include transthyretin (TTR) amyloidosis, fibrinogen amyloidosis, and apolipoprotein AI amyloidosis. These forms can affect various organs, including the heart, nerves, and kidneys.
4. Dialysis-Related Amyloidosis: This form is seen in patients undergoing long-term dialysis for chronic kidney disease. The amyloid fibrils are composed of beta-2 microglobulin, a protein that accumulates due to impaired clearance during dialysis. The joints and bones are commonly affected in this type of amyloidosis.

The diagnosis of amyloidosis typically involves a combination of clinical evaluation, imaging studies, and tissue biopsy with the demonstration of amyloid deposition using special stains (e.g., Congo red). Treatment depends on the specific type and extent of organ involvement and may include supportive care, medications to target the underlying cause (e.g., chemotherapy, immunomodulatory agents), and organ transplantation in some cases.

Familial amyloidosis is a genetic disorder characterized by the buildup of abnormal protein deposits called amyloid fibrils in various tissues and organs throughout the body. These abnormal protein deposits can cause damage to the affected organs, leading to a variety of symptoms.

There are several types of familial amyloidosis, but the most common type is transthyretin-related hereditary amyloidosis (TTR-HA). This form of the disorder is caused by mutations in the TTR gene, which provides instructions for making a protein called transthyretin. Transthyretin is a transport protein that helps move thyroid hormones and vitamin A around the body. In TTR-HA, mutations in the TTR gene cause the transthyretin protein to misfold and form amyloid fibrils.

Symptoms of familial amyloidosis can vary widely depending on which organs are affected. Commonly affected organs include the heart, kidneys, nerves, and gastrointestinal tract. Symptoms may include:

* Heart problems such as arrhythmias (irregular heartbeat), heart failure, or cardiac conduction abnormalities
* Kidney problems such as proteinuria (protein in the urine) or kidney failure
* Nerve damage leading to numbness, tingling, or pain in the hands and feet, or autonomic nervous system dysfunction affecting digestion, bladder function, or blood pressure regulation
* Gastrointestinal problems such as diarrhea, constipation, nausea, vomiting, or abdominal pain

Familial amyloidosis is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from a parent with the disorder. However, some cases may be due to new (de novo) mutations and occur in people without a family history of the disorder.

Diagnosis of familial amyloidosis typically involves a combination of clinical evaluation, genetic testing, and tissue biopsy to confirm the presence of amyloid fibrils. Treatment may involve medications to manage symptoms, as well as liver transplantation or other experimental therapies aimed at reducing the production of abnormal proteins that form amyloid fibrils.

Amyloid is a term used in medicine to describe abnormally folded protein deposits that can accumulate in various tissues and organs of the body. These misfolded proteins can form aggregates known as amyloid fibrils, which have a characteristic beta-pleated sheet structure. Amyloid deposits can be composed of different types of proteins, depending on the specific disease associated with the deposit.

In some cases, amyloid deposits can cause damage to organs and tissues, leading to various clinical symptoms. Some examples of diseases associated with amyloidosis include Alzheimer's disease (where amyloid-beta protein accumulates in the brain), systemic amyloidosis (where amyloid fibrils deposit in various organs such as the heart, kidneys, and liver), and type 2 diabetes (where amyloid deposits form in the pancreas).

It's important to note that not all amyloid deposits are harmful or associated with disease. However, when they do cause problems, treatment typically involves managing the underlying condition that is leading to the abnormal protein accumulation.

Serum Amyloid A (SAA) protein is an acute phase protein produced primarily in the liver, although it can also be produced by other cells in response to inflammation. It is a member of the apolipoprotein family and is found in high-density lipoproteins (HDL) in the blood. SAA protein levels increase rapidly during the acute phase response to infection, trauma, or tissue damage, making it a useful biomarker for inflammation.

In addition to its role as an acute phase protein, SAA has been implicated in several disease processes, including atherosclerosis and amyloidosis. In amyloidosis, SAA can form insoluble fibrils that deposit in various tissues, leading to organ dysfunction. There are four subtypes of SAA in humans (SAA1, SAA2, SAA3, and SAA4), with SAA1 and SAA2 being the most responsive to inflammatory stimuli.

Prealbumin, also known as transthyretin, is a protein produced primarily in the liver and circulates in the blood. It plays a role in transporting thyroid hormones and vitamin A throughout the body. Prealbumin levels are often used as an indicator of nutritional status and liver function. Low prealbumin levels may suggest malnutrition or inflammation, while increased levels can be seen in certain conditions like hyperthyroidism. It is important to note that prealbumin levels should be interpreted in conjunction with other clinical findings and laboratory tests for a more accurate assessment of a patient's health status.

Immunoglobulin light chains are the smaller protein subunits of an immunoglobulin, also known as an antibody. They are composed of two polypeptide chains, called kappa (κ) and lambda (λ), which are produced by B cells during the immune response. Each immunoglobulin molecule contains either two kappa or two lambda light chains, in association with two heavy chains.

Light chains play a crucial role in the antigen-binding site of an antibody, where they contribute to the specificity and affinity of the interaction between the antibody and its target antigen. In addition to their role in immune function, abnormal production or accumulation of light chains can lead to various diseases, such as multiple myeloma and amyloidosis.

Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder that primarily affects people of Mediterranean ancestry, including populations from Turkey, Armenia, Arab countries, and Jewish communities from the Middle East. It is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin or marenostrin.

The main features of FMF include recurrent episodes of fever, serositis (inflammation of the membranes lining the abdominal cavity, chest cavity, or heart), and polyserositis (inflammation affecting multiple serous membranes simultaneously). The attacks usually last between 12 and 72 hours and can be associated with severe abdominal pain, joint pain, and skin rashes.

The diagnosis of FMF is based on clinical criteria, family history, and genetic testing. Treatment typically involves the use of colchicine, an anti-inflammatory medication that helps prevent attacks and reduces the risk of long-term complications such as amyloidosis, a condition characterized by the buildup of abnormal protein deposits in various organs.

Early diagnosis and treatment of FMF are essential to prevent complications and improve quality of life for affected individuals.

Amyloid neuropathies are a group of peripheral nerve disorders caused by the abnormal accumulation of amyloid proteins in the nerves. Amyloid is a protein that can be produced in various diseases and can deposit in different organs, including nerves. When this occurs in the nerves, it can lead to damage and dysfunction, resulting in symptoms such as numbness, tingling, pain, and weakness in the affected limbs.

There are several types of amyloid neuropathies, with the two most common being:

1. Transthyretin (TTR)-related hereditary amyloidosis: This is an inherited disorder caused by mutations in the TTR gene, which leads to the production of abnormal TTR protein that can form amyloid deposits in various organs, including nerves.
2. Immunoglobulin light chain (AL) amyloidosis: This is a disorder in which abnormal plasma cells produce excessive amounts of immunoglobulin light chains, which can form amyloid deposits in various organs, including nerves.

The diagnosis of amyloid neuropathies typically involves a combination of clinical evaluation, nerve conduction studies, and tissue biopsy to confirm the presence of amyloid deposits. Treatment options depend on the underlying cause of the disorder and may include medications, chemotherapy, stem cell transplantation, or supportive care to manage symptoms.

Congo Red is a synthetic diazo dye that is commonly used in histology and pathology for stainings and tests. It is particularly useful in identifying amyloid deposits in tissues, which are associated with various diseases such as Alzheimer's disease, type 2 diabetes, and systemic amyloidosis.

When Congo Red binds to amyloid fibrils, it exhibits a characteristic apple-green birefringence under polarized light microscopy. Additionally, Congo Red stained amyloid deposits show a shift in their emission spectrum when excited with circularly polarized light, a phenomenon known as dichroism. These properties make Congo Red a valuable tool for the diagnosis and study of amyloidosis and other protein misfolding disorders.

It is important to note that Congo Red staining should be performed with care, as it can be toxic and carcinogenic if not handled properly.

Familial amyloid neuropathies are a group of inherited disorders characterized by the accumulation of abnormal deposits of amyloid proteins in various tissues and organs of the body. These abnormal deposits can cause damage to nerves, leading to a peripheral neuropathy that affects sensation, movement, and organ function.

There are several types of familial amyloid neuropathies, each caused by different genetic mutations. The most common type is known as transthyretin-related hereditary amyloidosis (TTR-HA), which is caused by mutations in the TTR gene. Other types include apolipoprotein A1-related hereditary amyloidosis (APOA1-HA) and gelsolin-related amyloidosis (AGel-HA).

Symptoms of familial amyloid neuropathies can vary depending on the type and severity of the disorder. Common symptoms include:

* Numbness, tingling, or pain in the hands and feet
* Weakness or loss of muscle strength in the legs and arms
* Autonomic nervous system dysfunction, leading to problems with digestion, heart rate, blood pressure, and temperature regulation
* Carpal tunnel syndrome
* Eye abnormalities, such as vitreous opacities or retinal deposits
* Kidney disease

Familial amyloid neuropathies are typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. Diagnosis is usually made through genetic testing and confirmation of the presence of amyloid deposits in tissue samples.

Treatment for familial amyloid neuropathies typically involves managing symptoms and slowing the progression of the disease. This may include medications to control pain, physical therapy to maintain muscle strength and mobility, and devices such as braces or wheelchairs to assist with mobility. In some cases, liver transplantation may be recommended to remove the source of the mutated transthyretin protein.

Cardiomyopathies are a group of diseases that affect the heart muscle, leading to mechanical and/or electrical dysfunction. The American Heart Association (AHA) defines cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropriate ventricular hypertrophy or dilatation and frequently lead to heart failure."

There are several types of cardiomyopathies, including:

1. Dilated cardiomyopathy (DCM): This is the most common type of cardiomyopathy, characterized by an enlarged left ventricle and impaired systolic function, leading to heart failure.
2. Hypertrophic cardiomyopathy (HCM): In this type, there is abnormal thickening of the heart muscle, particularly in the septum between the two ventricles, which can obstruct blood flow and increase the risk of arrhythmias.
3. Restrictive cardiomyopathy (RCM): This is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, impaired relaxation, and diastolic dysfunction, leading to reduced filling of the ventricles and heart failure.
4. Arrhythmogenic right ventricular cardiomyopathy (ARVC): In this type, there is replacement of the normal heart muscle with fatty or fibrous tissue, primarily affecting the right ventricle, which can lead to arrhythmias and sudden cardiac death.
5. Unclassified cardiomyopathies: These are conditions that do not fit into any of the above categories but still significantly affect the heart muscle and function.

Cardiomyopathies can be caused by genetic factors, acquired conditions (e.g., infections, toxins, or autoimmune disorders), or a combination of both. The diagnosis typically involves a comprehensive evaluation, including medical history, physical examination, electrocardiogram (ECG), echocardiography, cardiac magnetic resonance imaging (MRI), and sometimes genetic testing. Treatment depends on the type and severity of the condition but may include medications, lifestyle modifications, implantable devices, or even heart transplantation in severe cases.

Beta-2 microglobulin (β2M) is a small protein that is a component of the major histocompatibility complex class I molecule, which plays a crucial role in the immune system. It is found on the surface of almost all nucleated cells in the body and is involved in presenting intracellular peptides to T-cells for immune surveillance.

β2M is produced at a relatively constant rate by cells throughout the body and is freely filtered by the glomeruli in the kidneys. Under normal circumstances, most of the filtrated β2M is reabsorbed and catabolized in the proximal tubules of the nephrons. However, when the glomerular filtration rate (GFR) is decreased, as in chronic kidney disease (CKD), the reabsorption capacity of the proximal tubules becomes overwhelmed, leading to increased levels of β2M in the blood and its subsequent appearance in the urine.

Elevated serum and urinary β2M levels have been associated with various clinical conditions, such as CKD, multiple myeloma, autoimmune disorders, and certain infectious diseases. Measuring β2M concentrations can provide valuable information for diagnostic, prognostic, and monitoring purposes in these contexts.

Serum Amyloid P-component (SAP) is a protein that is normally present in the blood and other bodily fluids. It is a part of the larger family of pentraxin proteins, which are involved in the innate immune response, meaning they provide immediate defense against foreign invaders without needing to adapt over time. SAP plays a role in inflammation, immune complex clearance, and complement activation.

In the context of amyloidosis, SAP binds to misfolded proteins called amyloid fibrils, which can deposit in various tissues and organs, leading to their dysfunction and failure. The accumulation of these amyloid fibrils with SAP is a hallmark of systemic amyloidosis.

It's important to note that while SAP plays a role in the pathogenesis of amyloidosis, it is not directly responsible for causing the disease. Instead, its presence can serve as a useful marker for diagnosing and monitoring the progression of amyloidosis.

Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:

1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.

Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.

Paraproteinemias refer to the presence of abnormal levels of paraproteins in the blood. Paraproteins are immunoglobulins (antibodies) produced by plasma cells, which are a type of white blood cell found in the bone marrow. In healthy individuals, paraproteins play a role in the immune system's response to infection and disease. However, in certain conditions, such as multiple myeloma, monoclonal gammopathy of undetermined significance (MGUS), and Waldenstrom macroglobulinemia, plasma cells produce excessive amounts of a single type of paraprotein, leading to its accumulation in the blood.

Paraproteinemias can cause various symptoms depending on the level of paraproteins present and their impact on organs and tissues. These symptoms may include fatigue, weakness, numbness or tingling in the extremities, bone pain, recurrent infections, and kidney problems. In some cases, paraproteinemias may not cause any symptoms and may only be detected during routine blood tests.

It is important to note that while paraproteinemias are often associated with plasma cell disorders, they can also occur in other conditions such as chronic inflammation or autoimmune diseases. Therefore, further testing and evaluation are necessary to determine the underlying cause of paraproteinemia and develop an appropriate treatment plan.

Tracheal diseases refer to a group of medical conditions that affect the trachea, also known as the windpipe. The trachea is a tube-like structure made up of rings of cartilage and smooth muscle, which extends from the larynx (voice box) to the bronchi (airways leading to the lungs). Its primary function is to allow the passage of air to and from the lungs.

Tracheal diseases can be categorized into several types, including:

1. Tracheitis: Inflammation of the trachea, often caused by viral or bacterial infections.
2. Tracheal stenosis: Narrowing of the trachea due to scarring, inflammation, or compression from nearby structures such as tumors or goiters.
3. Tracheomalacia: Weakening and collapse of the tracheal walls, often seen in newborns and young children but can also occur in adults due to factors like chronic cough, aging, or connective tissue disorders.
4. Tracheoesophageal fistula: An abnormal connection between the trachea and the esophagus, which can lead to respiratory complications and difficulty swallowing.
5. Tracheal tumors: Benign or malignant growths that develop within the trachea, obstructing airflow and potentially leading to more severe respiratory issues.
6. Tracheobronchial injury: Damage to the trachea and bronchi, often caused by trauma such as blunt force or penetrating injuries.
7. Congenital tracheal abnormalities: Structural defects present at birth, including complete tracheal rings, which can cause narrowing or collapse of the airway.

Symptoms of tracheal diseases may include cough, wheezing, shortness of breath, chest pain, and difficulty swallowing. Treatment options depend on the specific condition and its severity but may involve medications, surgery, or other interventions to alleviate symptoms and improve respiratory function.

Kidney disease, also known as nephropathy or renal disease, refers to any functional or structural damage to the kidneys that impairs their ability to filter blood, regulate electrolytes, produce hormones, and maintain fluid balance. This damage can result from a wide range of causes, including diabetes, hypertension, glomerulonephritis, polycystic kidney disease, lupus, infections, drugs, toxins, and congenital or inherited disorders.

Depending on the severity and progression of the kidney damage, kidney diseases can be classified into two main categories: acute kidney injury (AKI) and chronic kidney disease (CKD). AKI is a sudden and often reversible loss of kidney function that occurs over hours to days, while CKD is a progressive and irreversible decline in kidney function that develops over months or years.

Symptoms of kidney diseases may include edema, proteinuria, hematuria, hypertension, electrolyte imbalances, metabolic acidosis, anemia, and decreased urine output. Treatment options depend on the underlying cause and severity of the disease and may include medications, dietary modifications, dialysis, or kidney transplantation.

Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.

Amyloidogenic proteins are misfolded proteins that can form amyloid fibrils, which are insoluble protein aggregates with a characteristic cross-beta sheet quaternary structure. These amyloid fibrils can accumulate in various tissues and organs, leading to the formation of amyloid deposits. The accumulation of amyloidogenic proteins and the resulting amyloid deposits have been associated with several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease, as well as systemic amyloidoses.

In Alzheimer's disease, for example, the amyloidogenic protein is beta-amyloid, which is produced from the proteolytic processing of the amyloid precursor protein (APP). In Parkinson's disease, the amyloidogenic protein is alpha-synuclein, which forms the main component of Lewy bodies.

It's important to note that not all misfolded proteins are necessarily amyloidogenic, and not all amyloid fibrils are associated with disease. Some amyloid fibrils can have functional roles in normal physiological processes.

Melphalan is an antineoplastic agent, specifically an alkylating agent. It is used in the treatment of multiple myeloma and other types of cancer. The medical definition of Melphalan is:

A nitrogen mustard derivative that is used as an alkylating agent in the treatment of cancer, particularly multiple myeloma and ovarian cancer. Melphalan works by forming covalent bonds with DNA, resulting in cross-linking of the double helix and inhibition of DNA replication and transcription. This ultimately leads to cell cycle arrest and apoptosis (programmed cell death) in rapidly dividing cells, such as cancer cells.

Melphalan is administered orally or intravenously, and its use is often accompanied by other anticancer therapies, such as radiation therapy or chemotherapy. Common side effects of Melphalan include nausea, vomiting, diarrhea, and bone marrow suppression, which can lead to anemia, neutropenia, and thrombocytopenia. Other potential side effects include hair loss, mucositis, and secondary malignancies.

It is important to note that Melphalan should be used under the close supervision of a healthcare professional, as it can cause serious adverse reactions if not administered correctly.

Bence Jones protein is a type of immunoglobulin light chain that can be detected in the urine or blood of some patients with certain diseases, most notably multiple myeloma. It's named after Henry Bence Jones, a 19th-century English physician who first described it.

These proteins are produced by malignant plasma cells, which are a type of white blood cell found in the bone marrow. In multiple myeloma, these cancerous cells multiply and produce abnormal amounts of immunoglobulins, leading to the overproduction of Bence Jones proteins.

When these proteins are excreted in the urine, they can cause damage to the kidneys, leading to kidney dysfunction or failure. Therefore, the detection of Bence Jones protein in the urine can be a sign of multiple myeloma or other related diseases. However, it's important to note that not all patients with multiple myeloma will have Bence Jones proteins in their urine.

A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:

1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.

2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.

3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.

4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.

5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.

After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.

"Acinonyx" is a genus name that refers to a single species of big cat, the cheetah. The correct medical definition of "Acinonyx" is:

* Acinonyx jubatus: a large, slender wild cat that is known for its incredible speed and unique adaptations for running. It is the fastest land animal, capable of reaching speeds up to 60-70 miles per hour. The cheetah's body is built for speed, with long legs, a flexible spine, and a non-retractable claw that provides traction while running.

The cheetah's habitat ranges from the savannas of Africa to the deserts of Iran. It primarily hunts medium-sized ungulates, such as gazelles and wildebeest. The cheetah's population has been declining due to habitat loss, human-wildlife conflict, and illegal wildlife trade. Conservation efforts are underway to protect this iconic species and its habitat.

Immunoglobulin lambda-chains (Igλ) are one type of light chain found in the immunoglobulins, also known as antibodies. Antibodies are proteins that play a crucial role in the immune system's response to foreign substances, such as bacteria and viruses.

Immunoglobulins are composed of two heavy chains and two light chains, which are interconnected by disulfide bonds. There are two types of light chains: kappa (κ) and lambda (λ). Igλ chains are one type of light chain that can be found in association with heavy chains to form functional antibodies.

Igλ chains contain a variable region, which is responsible for recognizing and binding to specific antigens, and a constant region, which determines the class of the immunoglobulin (e.g., IgA, IgD, IgE, IgG, or IgM).

In humans, approximately 60% of all antibodies contain Igλ chains, while the remaining 40% contain Igκ chains. The ratio of Igλ to Igκ chains can vary depending on the type of immunoglobulin and its function in the immune response.

Gelsolin is a protein that plays a role in the regulation of actin, which is a major component of the cytoskeleton in cells. The gelsolin protein can bind to and sever actin filaments, as well as cap their plus ends, preventing further growth. This regulation of actin dynamics is important for various cellular processes, including cell motility, wound healing, and the immune response.

There are two forms of gelsolin in humans: plasma gelsolin, which is found in blood plasma, and cytoplasmic gelsolin, which is found in the cytoplasm of cells. Plasma gelsolin has been shown to have anti-inflammatory properties and may play a role in protecting against sepsis and other inflammatory conditions.

Mutations in the gene that encodes gelsolin can lead to various genetic disorders, including familial amyloidosis, Finnish type (FAF), which is characterized by progressive nerve damage and muscle weakness.

Factor X deficiency, also known as Stuart-Prower factor deficiency, is a rare bleeding disorder that affects the body's ability to form blood clots. It is caused by a mutation in the gene that provides instructions for making coagulation factor X, a protein involved in the coagulation cascade, which is a series of chemical reactions that lead to the formation of a blood clot.

People with factor X deficiency may experience excessive bleeding after injury or surgery, and they may also have an increased risk of spontaneous bleeding, such as nosebleeds, heavy menstrual periods, and joint bleeds. The severity of the condition can vary widely, from mild to severe, depending on the level of factor X activity in the blood.

Factor X deficiency can be inherited or acquired. Inherited forms of the disorder are caused by mutations in the F10 gene and are usually present at birth. Acquired forms of the disorder can develop later in life due to conditions such as liver disease, vitamin K deficiency, or the use of certain medications that interfere with coagulation.

Treatment for factor X deficiency typically involves replacement therapy with fresh frozen plasma or recombinant factor X concentrates to help restore normal clotting function. In some cases, other treatments such as antifibrinolytic agents or desmopressin may also be used to manage bleeding symptoms.

Genetic skin diseases are a group of disorders caused by mutations or alterations in the genetic material (DNA), which can be inherited from one or both parents. These mutations affect the structure, function, or development of the skin and can lead to various conditions with different symptoms, severity, and prognosis.

Some examples of genetic skin diseases include:

1. Epidermolysis Bullosa (EB): A group of disorders characterized by fragile skin and mucous membranes that blister and tear easily, leading to painful sores and wounds. There are several types of EB, each caused by mutations in different genes involved in anchoring the epidermis to the dermis.
2. Ichthyosis: A family of genetic disorders characterized by dry, thickened, scaly, or rough skin. The severity and symptoms can vary widely, depending on the specific type and underlying genetic cause.
3. Neurofibromatosis: A group of conditions caused by mutations in the NF1 gene, which regulates cell growth and division. The most common types, NF1 and NF2, are characterized by the development of benign tumors called neurofibromas on the skin and nerves, as well as other symptoms affecting various organs and systems.
4. Tuberous Sclerosis Complex (TSC): A genetic disorder caused by mutations in the TSC1 or TSC2 genes, which control cell growth and division. TSC is characterized by the development of benign tumors in multiple organs, including the skin, brain, heart, kidneys, and lungs.
5. Xeroderma Pigmentosum (XP): A rare genetic disorder caused by mutations in genes responsible for repairing DNA damage from ultraviolet (UV) radiation. People with XP are extremely sensitive to sunlight and have a high risk of developing skin cancer and other complications.
6. Incontinentia Pigmenti (IP): A genetic disorder that affects the development and growth of skin, hair, nails, teeth, and eyes. IP is caused by mutations in the IKBKG gene and primarily affects females.
7. Darier's Disease: An inherited skin disorder characterized by greasy, crusted, keratotic papules and plaques, usually located on the trunk, scalp, and seborrheic areas of the body. Darier's disease is caused by mutations in the ATP2A2 gene.

These are just a few examples of genetic skin disorders. There are many more, each with its unique set of symptoms, causes, and treatments. If you or someone you know has a genetic skin disorder, it is essential to consult with a dermatologist or other healthcare professional for proper diagnosis and treatment.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Multiple myeloma is a type of cancer that forms in a type of white blood cell called a plasma cell. Plasma cells help your body fight infection by producing antibodies. In multiple myeloma, cancerous plasma cells accumulate in the bone marrow and crowd out healthy blood cells. Rather than producing useful antibodies, the cancer cells produce abnormal proteins that can cause complications such as kidney damage, bone pain and fractures.

Multiple myeloma is a type of cancer called a plasma cell neoplasm. Plasma cell neoplasms are diseases in which there is an overproduction of a single clone of plasma cells. In multiple myeloma, this results in the crowding out of normal plasma cells, red and white blood cells and platelets, leading to many of the complications associated with the disease.

The abnormal proteins produced by the cancer cells can also cause damage to organs and tissues in the body. These abnormal proteins can be detected in the blood or urine and are often used to monitor the progression of multiple myeloma.

Multiple myeloma is a relatively uncommon cancer, but it is the second most common blood cancer after non-Hodgkin lymphoma. It typically occurs in people over the age of 65, and men are more likely to develop multiple myeloma than women. While there is no cure for multiple myeloma, treatments such as chemotherapy, radiation therapy, and stem cell transplantation can help manage the disease and its symptoms, and improve quality of life.

Congo Red Amyloidosis, blood vessels, H&E Amyloidosis, lymph node, H&E Amyloidosis, lymph node, polarizer Cardiac amyloidosis. ... including the Amyloidosis Research Consortium, Amyloidosis Foundation, Amyloidosis Support Groups, and Australian 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 ...
AL amyloidosis, hereditary amyloidosis, dialysis-related amyloidosis and age-related systemic amyloidosis. Testing of serum and ... "AA Amyloidosis". Amyloidosis Foundation. Retrieved 9 January 2022. "Amyloidosis: AA". Cleveland Clinic. Retrieved 9 January ... Amyloidosis". Medscape Reference. "AA Amyloidosis". Amyloidosis Center. Boston University School of Medicin e. Katagiri D, ... AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in ...
For light-chain amyloidosis, the use of FLC assays and NT-proBNP levels can be used to monitor the progression of amyloidosis ... Cardiac amyloidosis is a subcategory of amyloidosis where there is depositing of the protein amyloid in the cardiac muscle and ... Presence of the monoclonal band would be consistent with light chain amyloidosis. For light chain amyloidosis, serum ... unless it is late stage amyloidosis. ECGs of patients with cardiac amyloidosis usually show a low voltage in the limb leads, ...
... is an inherited condition that may be characterized by systemic or localized deposition of amyloid ... in body tissues.: 522 Amyloidosis List of cutaneous conditions James, William D.; Berger, Timothy G.; et al. (2006). Andrews' ...
... 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 (ALECT2) is a form of amyloidosis caused by the LECT2 protein. It was found to be the third most common (~3% ... Thus, LECT2 amyloidosis, while classified as a form of systemic amyloidosis, almost exclusively manifests clinically as renal ...
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis. The ... "AL Amyloidosis". Amyloidosis Foundation. Retrieved 9 January 2022. Palladini G, Perfetti V, Obici L, et al. (April 2004). " ... "AL Amyloidosis". UNC. Archived from the original on 22 December 2011. Retrieved 22 November 2011. "Amyloidosis". University of ... About 10% to 15% of patients with multiple myeloma may develop overt AL amyloidosis. AL amyloidosis is never hereditary. Both ...
... is a form of systemic amyloidosis associated with chronic kidney failure. Even if this is ... Amyloidosis is the accumulation on misfolded protein fibers in the body. This is very common condition associated with many of ... There are several steps in prevention of dialysis related amyloidosis. Use of high flux dialyzers Use of Beta 2 globulin ... The mainstay of management of the dialysis related amyloidosis is the prevention than the other type of treatment methods. ...
... is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with ... 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 ...
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 ...
... is a form of amyloidosis affecting the atria of the heart.[citation needed] It is associated with ...
... is a skin condition that occurs following PUVA therapy and in benign and malignant cutaneous ... neoplasms in which deposits of amyloid may be found.: 522 Amyloidosis Skin lesion List of cutaneous conditions James, William D ...
... 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 Amylin deposition can occur in the pancreas in some ... 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 ...
... is a form of amyloidosis associated with oncostatin M receptor. This type of amyloidosis has been ... deposits Lichen amyloidosis on a 56-year-old male's leg Lichen amyloidosis on a 56-year-old male's leg Nodular amyloidosis is a ... and provide support to the theory that these two variants of amyloidosis exist on the same disease spectrum. Lichen amyloidosis ... 521 Combined cases of lichen and macular amyloidosis are termed biphasic amyloidosis, ...
... (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an ... Kiuru‐Enari, S.; Keski‐Oja, J.; Haltia, M. (2005). "Cutis laxa in hereditary gelsolin amyloidosis". British Journal of ... Articles with short description, Short description is different from Wikidata, Amyloidosis, Skin conditions resulting from ... "The role of gelsolin domain 3 in familial amyloidosis (Finnish type)". Proceedings of the National Academy of Sciences. 116 (28 ...
Levels of β2 microglobulin can be elevated in multiple myeloma and lymphoma, though in these cases primary amyloidosis (amyloid ... ISBN 0-07-141184-4. "Amyloidosis". The Lecturio Medical Concept Library. Retrieved 28 June 2021. Munshi NC, Longo DL, Anderson ... known as dialysis-related amyloidosis. Low levels of β2 microglobulin can indicate non-progression of HIV. ... a preprotein of hemodialysis-associated amyloidosis". Nephron. 53 (1): 37-40. doi:10.1159/000185699. PMID 2674742. Bataille R, ...
... amyloidosis. Baltazar Maldonado Rosales (55), polítician (former mayor of Apizaco Municipality, Tlaxcala; renal insufficiency ...
Infection (secondary obstruction) Neoplasm (secondary obstruction) Sarcoidosis (secondary obstruction). Amyloidosis. Systemic ...
Amyloidosis: This disease causes the buildup abnormal proteins called amyloid fibrils. Depositions of amyloid fibrils in the ... "AL Amyloidosis". UNC Kidney Center. Retrieved 2020-12-17. "Minimal change disease". www.kidneypathology.com. Retrieved 2020-12- ...
"Amyloidosis Overview". Centre for Amyloidosis and Acute Phase Proteins. University College London. 22 May 2018. Retrieved 27 ... to diagnose cardiac amyloidosis. The radiopharmaceutical is taken up only in patients with ATTR amyloidosis, making it a useful ... December 2017). "Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and ... September 2005). "Noninvasive Etiologic Diagnosis of Cardiac Amyloidosis Using 99m Tc-3,3-Diphosphono-1,2-Propanodicarboxylic ...
"Transthyretin amyloidosis". Genetics Home Reference. Retrieved 2015-06-20. "Gilbert syndrome". Genetics Home Reference. ... In transthyretin-related hereditary amyloidosis, the liver produces a mutated transthyretin protein which has severe ...
Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P (March 2003). "Hereditary prion protein amyloidoses". Clinics in ... April 1996). "Prion protein amyloidosis". Brain Pathology. 6 (2): 127-45. doi:10.1111/j.1750-3639.1996.tb00796.x. PMID 8737929 ...
Senile systemic amyloidosis [abbreviated "SSA"] is also associated with transthyretin aggregation.) "FAP-III" is also known as ... "ATTR Famililial Amyloidosis". BU - Amyloid Treatment & Research Program. Archived from the original on 2008-07-06. Said, G; ... Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation. In 2011 the European ... Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special ...
Medicine, Cartoon (2009-02-24). "Amyloidosis Awareness on Vimeo". Vimeo.com. Retrieved 2012-09-25. "Kimono As Art Artist-in- ... Amyloidosis Awareness (2009). In January 2009, Farnham produced and recorded his fourth album, Kimono, a fusion of Japanese ...
SIAT9 Amyloidosis, 3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200 ... TTR Amyloidosis, primary localized cutaneous; 105250; OSMR Amyloidosis, renal; 105200; LYZ Amyotrophic lateral sclerosis 10, ...
Kyle, RA (September 2001). "Amyloidosis: a convoluted story". British Journal of Haematology. 114 (3): 529-38. doi:10.1046/j. ...
Holmes RO, Edison J, Baethge BA, Jacobson DR (10 October 2018). "Amyloidosis: Definition of Amyloid and Amyloidosis, ... Congo Red positivity remains the gold standard for diagnosis of amyloidosis. In general, binding of Congo Red to amyloid ... Kyle RA (September 2001). "Amyloidosis: a convoluted story". British Journal of Haematology. 114 (3): 529-38. doi:10.1046/j. ... The International Society of Amyloidosis classifies amyloid fibrils and their associated diseases based upon associated ...
Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern ... The onset of FAC caused by aggregation of the V122I mutation and wild-type TTR, and senile systemic amyloidosis caused by the ... Unlike the situation in AL amyloidosis, the ECG voltage is often normal, although low voltage may be seen (despite increased ... Thus, Senile systemic amyloidosis and familial amyloid polyneuropathy are often treatable diseases that are misdiagnosed. ...
Ghiso J, Frangione B (December 2002). "Amyloidosis and Alzheimer's disease". Advanced Drug Delivery Reviews. 54 (12): 1539-51. ... "The length of amyloid-beta in hereditary cerebral hemorrhage with amyloidosis, Dutch type. Implications for the role of amyloid ...
... to diagnose amyloidosis. In patients with amyloidosis, large deposits of SAP coat the affected organs, in addition to the low ... SAP scanning is only carried out at two European centres; in the United Kingdom from the National Amyloidosis Centre, based at ... DPD scan Lass, Piotr (2014). "Nuclear imaging of amyloidosis". Polish Journal of Radiology. 79: 222-227. doi:10.12659/PJR. ... "The SAP scan (AL amyloidosis)". Myeloma UK. Retrieved 28 July 2019. Sachchithanantham, S.; Wechalekar, A. D. (29 July 2013). " ...
... disease Amyloidosis. A Brief History of The King's Royal Rifle Corps 1755 - 1965, by Christopher Wallace (ISBN 978-0954937003) ... ". "Amyloidosis Patient Information Site". (Pages containing London Gazette template with parameter supp set to y, Webarchive ...
Congo Red Amyloidosis, blood vessels, H&E Amyloidosis, lymph node, H&E Amyloidosis, lymph node, polarizer Cardiac amyloidosis. ... including the Amyloidosis Research Consortium, Amyloidosis Foundation, Amyloidosis Support Groups, and Australian 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 ...
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 ... Primary localized cutaneous amyloidosis: MedlinePlus Genetics (National Library of Medicine) * Transthyretin amyloidosis: ...
Amyloidosis is a generic term that signifies the abnormal extracellular tissue deposition of one of a family of biochemically ... Systemic amyloidosis is not associated with pruritus. Nonpruritic lichen amyloidosis has also been described. Pruritus usually ... Both macular and lichen amyloidosis can occur in the same patient; this is sometimes called biphasic amyloidosis. A skin biopsy ... 9] Amyloid deposits in macular amyloidosis and lichen amyloidosis bind to antikeratin antibodies. These deposits contain ...
Dr Taylor Lebeis highlights the key aspects of a diagnostic workup for cardiac amyloidosis. ... The most common forms of cardiac amyloidosis are immunoglobulin light chain amyloidosis (AL-CM) and transthyretin amyloidosis ( ... only nine build up in the myocardium and cause cardiac amyloidosis. The different types of amyloidosis are named by the letter ... that should raise suspicion for amyloidosis and which warrant further testing. Clinical manifestations of cardiac amyloidosis ...
Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. ... Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and ... Guideline of transthyretin-related hereditary amyloidosis for clinicians Orphanet J Rare Dis. 2013 Feb 20:8:31. doi: 10.1186/ ... Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and ...
... for stage 1 and stage 2 polyneuropathy in adults with hereditary transthyretin amyloidosis ... The National Amyloidosis Centre in London provides the only highly specialised service for people with amyloidosis and related ... Because hATTR amyloidosis can affect tissues throughout the body, people may have a range of symptoms affecting 1 or more ... Hereditary transthyretin (hATTR) amyloidosis is an ultra-rare condition caused by inherited mutations in the transthyretin (TTR ...
Amyloidosis Diagnosis Consultation: What Am I Seeing?. This 8-minute video tunes into a conversation between two expert Cardiac ... The duo reviews a Cardiac Amyloidosis patient case study, breaks down the echo report with helpful images and reviews red flags ... Find clinical pearls and in-depth explanations regarding the recognition and diagnosis of Cardiac Amyloidosis. ... Amyloidosis clinicians, a cardiologist and a nurse practitioner. ... Cardiac Amyloidosis Provider Tools. *Cardio-Oncology Provider ...
Overview of amyloidosis, a condition where abnormal proteins called amyloid build up in organs and tissues, and how the ... How common is kidney-related amyloidosis?. Amyloidosis is rare. AL amyloidosis is the most common type of amyloidosis in the ... Clinical Trials for Amyloidosis & Kidney Disease. What is amyloidosis?. Amyloidosis is a rare disease that occurs when amyloid ... AL amyloidosis. AL amyloidosis is most common in people over the age of 65, and the risk of developing AL amyloidosis increases ...
ATTRv Amyloidosis: Shared Decision-Making Hereditary amyloid transthyretin (ATTRv) amyloidosis is a complex condition impacting ... Fostering Patient-Centered Care: Facilitating Shared Decision-Making Across the ATTRv Amyloidosis Care Continuum ... Given the complexities involved in managing hereditary amyloid transthyretin (ATTRv) amyloidosis, it is imperative to provide ...
... Noninvasive diagnostic techniques have broadened the understanding of affected populations, ... Systemic amyloidosis due to accumulation of misfolded transthyretin protein (TTR) causes cardiomyopathy in approximately 50 to ... As a result cardiac amyloidosis is more prevalent among African Americans than among people of other races in the United States ... Senile cardiac amyloidosis is often associated with microscopic deposits in many other organs. ...
AstraZeneca has clearly made the rare disease transthyretin amyloidosis (ATTR) a key component of its rare disease pipeline, ... "There is a significant unmet medical need for patients with various types and levels of severity of amyloidosis that may ... AstraZeneca has clearly made the rare disease transthyretin amyloidosis (ATTR) a key component of its rare disease pipeline, ... an antibody acquired along with Caelum Biosciences last year for another form of the amyloidosis known as amyloid light chain ( ...
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WEBINAR: What is new and exciting in ATTR cardiac amyloidosis 2024. Whats new and exciting in ATTR cardiac amyloidosis 2024 ... Beyond Standard of Care Treatment for Light Chain (AL) Amyloidosis: The Promise of Tomorrow. Heather Landau, MD - Memorial ... The Weill Cornell Medicine Center holds free amyloidosis support group meetings virtually every month. These groups are led by ... By submitting this form, you are consenting to receive marketing emails from : Amyloidosis Foundation, 7151 N. Main St., Suite ...
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My current diagnosis is Amyloidosis and multiple myeloma I[…] - Page 3 ... Id like to introduce you to @gaetanche @mvpdda and @tmousetis who also have amyloidosis. Hopefully they will join this ... I have taken the Table 6-1 from of the MA Gertz book, Amyloidosis - Diagnosis and Treatment, and adapted and filled it out in ... Current diagnosis is Amyloidosis and multiple myeloma. Posted by jan52241 @jan52241, Jun 12, 2016 ...
Biopsies of the lacrimal gland were positive for immunoglobulin light chain amyloidosis. Debulking surgery is the main ... treatment modality for symptomatic patients with localized orbital amyloidosis. Diffuse orbital involvement may make excision ...
**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was | POSTER
... amyloidosis and transthyretin-related (TTR) amyloidosis, as hereditary or acquired form. The heart involvement due to the ... Advances in the Management of Cardiac Amyloidosis,Special Issue Introduction:Systemic amyloidosis is a rare haematologic ... a comprehensive state-of-art of the current knowledge about cardiac amyloidosis; (2) to stimulate researchers to share their ... experience in this field, since the overall contributions could open new borders in such rare diseases, as cardiac amyloidosis. ...
This support group dedicated to providing myeloma patients, survivors and their loved ones with awareness, education and support.
... www.webmd.com/a-to-z-guides/amyloidosis-symptoms-causes-treatments ... amyloidosis Amyloid literally means starch-like. In fact, it is not a disease but a build-up of substances resulting from the ... amyloidosis an incurable disease that left me orphaned as a child. may god not give it to my enemy. ... amyloidosis The disease that took my two dear brothers from us one month apart :( ...
Amyloidosis - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... AL (primary amyloidosis) AL amyloidosis (primary amyloidosis) Amyloidosis is any of a group of disparate conditions ... AF (familial amyloidosis) AF amyloidosis (familial amyloidosis) Amyloidosis is any of a group of disparate conditions ... AA (secondary amyloidosis) AA amyloidosis (secondary amyloidosis) Amyloidosis is any of a group of disparate conditions ...
Tag: amyloidosis. Charity begins at the home page. My birthday is approaching and, in lieu of any gifts, I am asking for ... donations to the Amyloidosis Research Fund. In April 2020 my entire family was devastated by the loss of my mum, Dot Hampton. ...
View all - Heart Failure Amyloidosis Paediatric Heart Failure Imaging and Diagnosis Devices Co-morbidities Cardiomyopathy ...
A new method for the diagnosis of systemic amyloidosis.. P Westermark, B Stenkvist. Archives of Internal Medicine 1973 October ...
Amyloidosis answers are found in the Diseases and Disorders powered by Unbound Medicine. Available for iPhone, iPad, Android, ... Sommers, Marilyn Sawyer.. "Amyloidosis." Diseases and Disorders, 6th ed., F.A. Davis Company, 2019. Nursing Central, nursing. ... unboundmedicine.com/nursingcentral/view/Diseases-and-Disorders/73517/all/Amyloidosis. Sommers MSM. Amyloidosis. Diseases and ... nursing.unboundmedicine.com/nursingcentral/view/Diseases-and-Disorders/73517/all/Amyloidosis PB - F.A. Davis Company ET - 6 DB ...
Read more about our Amyloidosis Foundation resource here. ...
Onpattro (Patisiran) for amyloidosis. Overview Onpattro is a prescription drug approved by the U.S. Food and Drug ... Administration (FDA) to treat adults with nerve damage resulting from hereditary transthyretin-mediated (hATTR) amyloidosis. ...
Localised amyloidosisAustralian Amyloidosis Network2022-10-18T10:47:09+11:00 Localised amyloidosis. ... Localised amyloidosis is also known as Localised light chain amyloidosis. Why? AL (light chain) amyloidosis is caused by an ... What sort of amyloidosis do i have?. What proof is there that I have that type of amyloidosis?. Why do you think the treatment ... The prognosis of localized amyloidosis is excellent. A study of 606 patients diagnosed with localised amyloidosis at the ...
Neuropathy and Amyloidosis Neuropathy can be an early manifestation of systemic amyloidosis. Such patients often present with a ... Neuropathy can be an early manifestation of systemic amyloidosis. Patients often present with painful distal and symmetric ... Amyloidosis in skin of patient with amyloid neuropathy, as detected by Congo Red stain. Arrow points to the amyloid deposits. ... Amyloidosis in skin of patient with amyloid neuropathy, as detected by Congo Red stain. Arrow points to the amyloid deposits. ...
Amyloidosis is a rare disease in which abnormally folded proteins form into collections called amyloid fibrils that accumulate ...
  • The four most common types of systemic amyloidosis are light chain (AL), inflammation (AA), dialysis-related (Aβ2M), and hereditary and old age (ATTR and Wild-type transthyretin amyloid). (wikipedia.org)
  • In the developed world about 1 per 1,000 people die annually from systemic amyloidosis. (wikipedia.org)
  • Amyloidosis of the central nervous system can have more severe and systemic presentations that may include life-threatening arrhythmias, cardiac failure, malnutrition, infection, or death. (wikipedia.org)
  • Primary localized cutaneous amyloidosis (PLCA) is characterized by extracellular deposition of heterogenic amyloid proteins in the skin without systemic involvement. (medscape.com)
  • Systemic amyloidosis due to accumulation of misfolded transthyretin protein (TTR) causes cardiomyopathy in approximately 50 to 150,000 people in the US. (standardofcare.com)
  • Systemic amyloidosis is a rare haematologic disorder where fibrils of misfolded proteins acquire a b-pleated sheet conformation, form amyloid fibril proteins, and begin to infiltrate tissues leading to organ failure. (oaepublish.com)
  • In systemic amyloidosis, circulating amyloidogenic proteins form deposits in a variety of organs. (msdmanuals.com)
  • A new method for the diagnosis of systemic amyloidosis. (qxmd.com)
  • The main types of amyloidosis, AL, ATTR, AA are referred to as systemic diseases because the amyloid can deposit in any organ of the body. (aan.org.au)
  • A study of 606 patients diagnosed with localised amyloidosis at the National Amyloidosis Centre between 1980 and 2011 concluded that only one patient progressed to systemic amyloidosis. (aan.org.au)
  • To be certain that this is localized disease the usual work up tests will be performed to rule out systemic amyloidosis. (aan.org.au)
  • Neuropathy can be an early manifestation of systemic amyloidosis. (therapath.com)
  • Primary systemic amyloidosis: clinical and laboratory features in 474 cases. (medscape.com)
  • Absolute values of immunoglobulin free light chains are prognostic in patients with primary systemic amyloidosis undergoing peripheral blood stem cell transplantation. (medscape.com)
  • Early lymphocyte recovery predicts superior survival after autologous hematopoietic stem cell transplantation for patients with primary systemic amyloidosis. (medscape.com)
  • Prospective randomized trial of melphalan and prednisone versus vincristine, carmustine, melphalan, cyclophosphamide, and prednisone in the treatment of primary systemic amyloidosis. (medscape.com)
  • Further examinations did not indicate systemic amyloidosis . (bvsalud.org)
  • Treatment depends on the type of amyloidosis you have. (medlineplus.gov)
  • Some people with kidney failure may experience another type of amyloidosis, known as dialysis-related amyloidosis. (nih.gov)
  • AL amyloidosis is the most common type of amyloidosis in the United States, and it affects approximately 40 out of every 1 million Americans. (nih.gov)
  • The risk factors for kidney-related amyloidosis depend on the type of amyloidosis. (nih.gov)
  • Treatment varies with the type of amyloidosis. (msdmanuals.com)
  • AL amyloidosis is the most prevalent type of amyloidosis. (mpeurope.org)
  • In wild-type ATTR amyloidosis, non-cardiac symptoms include: bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, small fiber neuropathy, and autonomic dysfunction. (wikipedia.org)
  • Cardiac amyloidosis can present with symptoms of heart failure including shortness of breath, fatigue, and edema. (wikipedia.org)
  • As cardiac amyloidosis progresses, the amyloid deposition can affect the heart's ability to pump and fill blood as well as its ability to maintain normal rhythm, which leads to worsening heart function and decline in people's quality of life. (wikipedia.org)
  • Cardiac amyloidosis is a progressive, infiltrative cardiomyopathy in which there are abnormal amyloid fibril deposits in the interstitial space between cardiac myocytes. (medscape.com)
  • Managing cardiac amyloidosis is challenging and complex because patients often experience refractory symptoms, medication intolerance, multisystem involvement, and hypotension. (medscape.com)
  • Here are five things to know about the diagnostic workup of cardiac amyloidosis. (medscape.com)
  • Although cardiac amyloidosis cannot be diagnosed through routine testing, there are several clinical features or "red flags" that should raise suspicion for amyloidosis and which warrant further testing. (medscape.com)
  • Electrocardiography (ECG) and transthoracic echocardiography are initial imaging studies in the diagnostic workup of patients with suspected cardiac amyloidosis. (medscape.com)
  • Common findings on ECG that increase suspicion for cardiac amyloidosis include low QRS voltage, atrial fibrillation, conduction system disease, and pseudoinfarct pattern. (medscape.com)
  • 2. There are two main types of cardiac amyloidosis. (medscape.com)
  • Although there are more than 36 types of amyloid precursor proteins, only nine build up in the myocardium and cause cardiac amyloidosis. (medscape.com)
  • The most common forms of cardiac amyloidosis are immunoglobulin light chain amyloidosis (AL-CM) and transthyretin amyloidosis (ATTR-CM) . (medscape.com)
  • People with hATTR amyloidosis are assessed (for overall clinical status, neuropathy progression and cardiac involvement) and followed up every 6 months at the centre, and treatment is started there. (nice.org.uk)
  • This 8-minute video tunes into a conversation between two expert Cardiac Amyloidosis clinicians, a cardiologist and a nurse practitioner. (pcna.net)
  • The duo reviews a Cardiac Amyloidosis patient case study, breaks down the echo report with helpful images and reviews red flags as well as common Amyloidosis mimickers. (pcna.net)
  • Find clinical pearls and in-depth explanations regarding the recognition and diagnosis of Cardiac Amyloidosis. (pcna.net)
  • In contrast to light chain amyloidosis (AL), symptomatic cardiac involvement in ATTR does not necessarily portend a poor prognosis. (standardofcare.com)
  • As a result cardiac amyloidosis is more prevalent among African Americans than among people of other races in the United States. (standardofcare.com)
  • 2) to stimulate researchers to share their experience in this field, since the overall contributions could open new borders in such rare diseases, as cardiac amyloidosis. (oaepublish.com)
  • Although amyloidosis was thought to be rare , improved diagnostic studies, better recognition of symptoms, and the availability of newer therapies have led to increased diagnosis and incidence. (medscape.com)
  • Troponin and BNP levels within the normal range are quite sensitive in excluding the diagnosis of amyloidosis. (medscape.com)
  • Amyloidosis Diagnosis Consultation: What Am I Seeing? (pcna.net)
  • My current diagnosis is Amyloidosis and multiple myeloma I have no one who understands this condition to talk to. (mayoclinic.org)
  • I have taken the Table 6-1 from of the MA Gertz book, 'Amyloidosis - Diagnosis and Treatment', and adapted and filled it out in my own case, including my own stuff. (mayoclinic.org)
  • It is imperative to identify the "type" even though all information may point to the diagnosis being localized amyloidosis, as treatment is different for each type of amyloid. (aan.org.au)
  • Localized amyloidosis should be considered in the differential diagnosis of esophageal submucosal tumors . (bvsalud.org)
  • There are about 36 different types of amyloidosis, each due to a specific protein misfolding. (wikipedia.org)
  • The different types of amyloidosis are named by the letter "A" followed by an abbreviation for the type of precursor protein that has misfolded. (medscape.com)
  • The National Amyloidosis Centre in London provides the only highly specialised service for people with amyloidosis and related disorders in the UK. (nice.org.uk)
  • Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. (wikipedia.org)
  • Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. (medlineplus.gov)
  • Amyloidosis is a generic term that signifies the abnormal extracellular tissue deposition of one of a family of biochemically unrelated proteins that share certain characteristic staining properties, including apple-green birefringence of Congo red-stained preparations viewed under polarizing light. (medscape.com)
  • Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. (nih.gov)
  • Dialysis-related amyloidosis causes amyloid proteins to build up in bones, joints, and tendons. (nih.gov)
  • At least 30 different proteins have been reported to produce amyloid fibrils, but two types are more capable of affecting the heart, such as light-chain (AL) amyloidosis and transthyretin-related (TTR) amyloidosis, as hereditary or acquired form. (oaepublish.com)
  • Amyloidosis is any of a group of disparate conditions characterized by extracellular deposition of insoluble fibrils composed of misaggregated proteins. (msdmanuals.com)
  • A number of normal (wild-type) and mutant proteins are susceptible to such misfolding and aggregation (amyloidogenic proteins), thus accounting for the wide variety of causes and types of amyloidosis. (msdmanuals.com)
  • For amyloidosis to develop, in addition to production of amyloidogenic proteins, there is probably also a failure of the normal clearance mechanisms for such misfolded proteins. (msdmanuals.com)
  • Localized forms of amyloidosis appear to be caused by local production and deposition of an amyloidogenic protein (most often immunoglobulin light chains) within the affected organ rather than by deposition of circulating proteins. (msdmanuals.com)
  • Amyloidosis is the name given to a group of rare, complicated disorders in which amyloid consisting of misfolded proteins, which are relatively insoluble, deposit and accumulate, in no particular order, in tissues and organs of the body with the exception of the brain. (aan.org.au)
  • In secondary, or hereditary amyloidosis, the fibrils are composed of mutated proteins, most often transthyretin, and less frequently apoprotein A-1 or gelsolin (Mendell, 2001). (therapath.com)
  • Amyloidosis occurs when soluble proteins misshape and bind together giving rise to insoluble aggregates, called amyloid fibrils, which deposit in organs and tissues and interfere with their normal functioning. (mpeurope.org)
  • Neuropathic presentation can depend on the etiology of amyloidosis. (wikipedia.org)
  • The symptoms and severity of amyloidosis depend on which organs and tissues are affected. (nih.gov)
  • There is a significant unmet medical need for patients with various types and levels of severity of amyloidosis that may require multiple mechanisms of action to address those needs," said AZ in a statement on the new deal. (pharmaphorum.com)
  • Myeloma associated amyloidosis presenting as subacute liver failure. (medscape.com)
  • Some types of amyloidosis are closely related to other conditions ranging from inflammatory diseases (rheumatoid arthritis, chronic infections, Crohn's disease) to haematological malignancies such as multiple myeloma, Waldenström macroglobulinemia and chronic lymphocytic leukemia. (mpeurope.org)
  • In AL amyloidosis, like in myeloma, abnormal plasma cells in the bone marrow are the source of the pathology. (mpeurope.org)
  • While, on a cellular level, the diseases are similar in AL amyloidosis, unlike myeloma, in the majority of patients, there is no large increase in the number of abnormal plasma cells. (mpeurope.org)
  • Furthermore, approximately 10-15% of myeloma patients will develop amyloidosis, and around 30% of patients will develop subclinical amyloid deposits, which means the disease is not clinically manifested. (mpeurope.org)
  • In both cases, this disease is called multiple myeloma associated amyloidosis and it is treated in the same way as myeloma. (mpeurope.org)
  • Hereditary transthyretin (hATTR) amyloidosis is an ultra-rare condition caused by inherited mutations in the transthyretin (TTR) gene. (nice.org.uk)
  • Because hATTR amyloidosis can affect tissues throughout the body, people may have a range of symptoms affecting 1 or more systems. (nice.org.uk)
  • At the time of the company's evidence submission, there were thought to be around 150 people with hATTR amyloidosis in the UK. (nice.org.uk)
  • Neuropathy in hATTR amyloidosis can be classified according to walking ability (described by Coutinho et al. (nice.org.uk)
  • Current treatment options for people with hATTR amyloidosis are limited. (nice.org.uk)
  • There are no disease-modifying treatments for people with hATTR amyloidosis that is being treated in the NHS. (nice.org.uk)
  • Other pharmacological treatments may be used, including diflunisal, which is sometimes used outside of its marketing authorisation to treat hATTR amyloidosis. (nice.org.uk)
  • Onpattro is a prescription drug approved by the U.S. Food and Drug Administration (FDA) to treat adults with nerve damage resulting from hereditary transthyretin-mediated (hATTR) amyloidosis. (myamyloidosisteam.com)
  • The symptoms of hereditary ATTR (hATTR) amyloidosis can vary widely among people with the condition and even within families. (hattrbridge.com)
  • The age that symptoms of hATTR amyloidosis typically appear ranges from the mid-20s to the mid-60s . (hattrbridge.com)
  • Because symptoms of hATTR amyloidosis can worsen over time, it's important to talk to your doctor about them as soon as possible. (hattrbridge.com)
  • This is not a complete list of symptoms that may be experienced in patients with hATTR amyloidosis. (hattrbridge.com)
  • Symptoms of hATTR amyloidosis may worsen over time. (hattrbridge.com)
  • The symptoms of hATTR amyloidosis can often have an impact on day-to-day activities. (hattrbridge.com)
  • You will be directed to a website for a prescription medicine that treats the polyneuropathy caused by an illness called hereditary transthyretin-mediated amyloidosis (hATTR) amyloidosis in adults. (hattrbridge.com)
  • Lichen amyloidosis is believed to be more prevalent among Southern Chinese and South American populations. (medscape.com)
  • Lichen amyloidosis accounts for approximately 10% of cases of PLCA. (medscape.com)
  • The lichen amyloidosis in this syndrome is usually localized to the interscapular region consisting of lichenoid papules, with hyperpigmentation and fine scaling. (medscape.com)
  • The histopathologic and immunohistochemistry findings are similar to those in isolated lichen amyloidosis, pointing to keratin-derived amyloidosis. (medscape.com)
  • Maddison et al suggest a possible cause of the severe pruritus associated with lichen amyloidosis in relation to nerve fiber density. (medscape.com)
  • Lichen amyloidosis is a chronic condition without potential for malignant transformation or increase in mortality. (medscape.com)
  • [ 9 ] Amyloid deposits in macular amyloidosis and lichen amyloidosis bind to antikeratin antibodies. (medscape.com)
  • Apaydin et al found no differences in staining characteristics of cytokeratins between macular amyloidosis and lichen amyloidosis. (medscape.com)
  • This is sometimes known as lichen amyloidosis which is often seen in the skin on thighs and forearms. (aan.org.au)
  • Hereditary amyloidosis can be passed down from a parent to a child through rare gene mutations . (nih.gov)
  • Hereditary amyloidosis is more common in people who have a family member with the condition. (nih.gov)
  • This causes the liver to produce abnormal TTR protein, which accumulates as deposits in body tissues (amyloidosis). (nice.org.uk)
  • In localised amyloidosis deposits often appear as small nodules or tumors and may be treated by local incision. (aan.org.au)
  • Radioimmunodetection of amyloid deposits in patients with AL amyloidosis. (medscape.com)
  • Amyloidosis is a rare disease characterized by a buildup of abnormal amyloid deposits in the body. (lu.se)
  • Immunoglobulin light-chain amyloidosis (AL amyloidosis), or primary amyloidosis, affects the kidneys in about 2 out of 3 people with this condition. (nih.gov)
  • 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)
  • In AL amyloidosis, plasma cell dyscrasias produce kappa or lambda monoclonal light chains as an intact molecule or fragment, though the lambda isotope occurs in approximately 75%-80% of cases. (medscape.com)
  • Primary amyloidosis is associated with monoclonal gammopathy and the amyloid fibrils are made up of fragments of the monoclonal immunoglobulin light chains. (therapath.com)
  • Serum immunoglobulin free light-chain measurement in primary amyloidosis: prognostic value and correlations with clinical features. (medscape.com)
  • A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine. (medscape.com)
  • Treatment of 100 patients with primary amyloidosis: a randomized trial of melphalan, prednisone, and colchicine versus colchicine only. (medscape.com)
  • AL (primary amyloidosis), AA (secondary amyloidosis) familiar ATTR amyloidosis and wild-type (senile) ATTR amyloidosis. (mpeurope.org)
  • Infiltrative diseases such as sarcoidosis or amyloidosis, and rare genetic diseases such as Wilson disease, primary hemochromatosis, and alpha-1-antitrypsin deficiency, must be excluded. (cdc.gov)
  • Approximately 20% and 40-60% of people with AL and AA amyloidosis respectively progress to end-stage kidney disease requiring dialysis. (wikipedia.org)
  • Amyloid A amyloidosis (AA amyloidosis), or secondary amyloidosis, is often associated with certain chronic inflammatory conditions. (nih.gov)
  • Amyloidosis can occur de novo or be secondary to various infectious, inflammatory, or malignant conditions. (msdmanuals.com)
  • Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. (nih.gov)
  • This observation unfortunately parallels diagnostic delays for light-chain amyloidosis. (standardofcare.com)
  • Neurimmune's antibody slots into AZ's pipeline alongside eplontersen - which is being developed in phase 3 for all types of ATTR - as well as CAEL-101 , an antibody acquired along with Caelum Biosciences last year for another form of the amyloidosis known as amyloid light chain (AL) amyloidosis in a $500 million deal. (pharmaphorum.com)
  • Localised amyloidosis is also known as Localised light chain amyloidosis. (aan.org.au)
  • AL (light chain) amyloidosis is caused by an abnormal protein (the light chain of an immunoglobulin or antibody protein) made by abnormal plasma cells found in the bone marrow. (aan.org.au)
  • The clinical utility and prognostic value of multiparameter flow cytometry immunophenotyping in light-chain amyloidosis. (medscape.com)
  • This disease (also referred to as light chain amyloidosis ) arises from abnormal plasma cells, which are a type of immune cell responsible for antibodies production. (mpeurope.org)
  • In AL amyloidosis patients, plasma cells proliferate less, and they produce an abnormal antibody light chain, which is deposited in tissues and organs as amyloid. (mpeurope.org)
  • Periocular and orbital amyloidosis: clinical characteristics, management, and outcome. (medscape.com)
  • Clinical pathological feature of early tongue amyloidosis. (medscape.com)
  • As the clinical outcome of localized amyloidosis is favorable, this case was scheduled for close follow-up. (bvsalud.org)
  • This article aims to help physicians better understand transthyretin amyloidosis--and, specifically, familial amyloidotic polyneuropathy--so they can recognize and manage the disease more easily and discuss it with their patients. (nih.gov)
  • The prognosis of localized amyloidosis is excellent. (aan.org.au)
  • For example, peripheral neuropathy can cause erectile dysfunction, incontinence and constipation, pupillary dysfunction, and sensory loss depending on the distribution of amyloidosis along different peripheral nerves. (wikipedia.org)
  • Chopra A. 125 I-Labeled single-chain monoclonal antibody, NS4F5, that targets the GlcNS6S-IdoA2S motif of heparan sulfate proteoglycans for the in vivo imaging of peripheral amyloidosis. (medscape.com)
  • There are several non-specific and vague signs and symptoms associated with amyloidosis. (wikipedia.org)
  • As new targeted treatments become available, including those that improve neurologic symptoms, early identification of amyloidosis is important to delay disease progression and improve quality of life. (medscape.com)
  • What are the symptoms of kidney-related amyloidosis? (nih.gov)
  • When amyloidosis affects your kidneys, the most common symptom is nephrotic syndrome -a group of symptoms that indicate kidney damage. (nih.gov)
  • Nursing Central , nursing.unboundmedicine.com/nursingcentral/view/Diseases-and-Disorders/73517/all/Amyloidosis. (unboundmedicine.com)
  • Amyloidosis is a group of rare diseases with similar characteristics. (mpeurope.org)
  • People with amyloidosis do not get central nervous system involvement but can develop sensory and autonomic neuropathies. (wikipedia.org)
  • People with amyloidosis may experience dysfunction in various organ systems depending on the location and extent of nervous system involvement. (wikipedia.org)
  • I live in Toronto, Ontario and have AL amyloidosis with multiple organ involvement. (amyloidosis.org)
  • Amyloidosis can affect different organs and tissues in different people, and it can affect more than one organ at the same time. (nih.gov)
  • Localised amyloidosis of a non-AL type may very rarely be found incidentally in areas such as glandular tissues and blood vessels. (aan.org.au)
  • LECT2 amyloidosis is most common in Hispanic adults, particularly those of Mexican descent. (nih.gov)
  • Evidence-based recommendations on vutrisiran (Amvuttra) for treating hereditary transthyretin-related amyloidosis in adults. (bvsalud.org)
  • Amyloidosis may also affect accessory digestive organs including the liver, and may present with jaundice, fatty stool, anorexia, fluid buildup in the abdomen, and spleen enlargement. (wikipedia.org)
  • Several types of amyloidosis, including the AL and AA types, are associated with nephrotic syndrome. (wikipedia.org)
  • Orbital amyloidosis and radiotherapy: A case report and review of literature. (unil.ch)
  • Leukocyte cell-derived chemotaxin 2 (LECT2) amyloidosis is a recently discovered form of amyloidosis that most often affects the kidneys and liver. (nih.gov)
  • 15%). Multiple features of amyloidosis seen on these diagnostic studies warrant further specialized testing. (medscape.com)
  • The aim of the present study is the evaluate photoacoustic imaging as a non-invasive diagnostic technique för amyloidosis. (lu.se)
  • If amyloidosis affects your heart's electrical system, the heart rhythm may be disturbed. (lu.se)
  • Given the complexities involved in managing hereditary amyloid transthyretin (ATTRv) amyloidosis, it is imperative to provide patients with. (primeinc.org)
  • Amyloidosis caused by aggregation of beta-2-microglobulin can occur in patients on long-term hemodialysis, but the incidence has declined with use of modern high-flow dialysis membranes. (msdmanuals.com)
  • In the bone marrow of AL amyloidosis patients, a plasma cell clone composed of abnormal plasma cells produces misfolded immunoglobulin light chains. (mpeurope.org)
  • What are the types of kidney-related amyloidosis? (nih.gov)
  • Four types of amyloidosis most often affect the kidneys . (nih.gov)
  • 2 The other types of amyloidosis are even less common. (nih.gov)
  • AA amyloidosis is most common in people who have experienced a long-lasting infection or chronic inflammatory disorder. (nih.gov)
  • One of the most common genetic causes of hereditary Transthyretin amyloidosis is a valine to isoleucine amino acid substitution a position 122 (V1221) in the TT or a coding sequence that is primarily found in individuals of African ancestry. (standardofcare.com)
  • Risk of developing dialysis-related amyloidosis increases the longer you have been on dialysis, the older you are at the start of dialysis treatment, and the more your kidney function has declined. (nih.gov)