Amyloidosis familial. Medical search

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.

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.

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. (1/67)

Hereditary familial amyloidosis of Finnish type (FAF) leading to amyloid in the peripheral and central nervous systems stems from deposition of a 71 residue fragment generated from the D187N/Y variants of plasma gelsolin by two sequential endoproteolytic events. We identify the protease accomplishing the first cleavage as furin, a proprotein convertase. Endoproteolysis of plasma gelsolin occurs in the trans-Golgi network due to the inability of the FAF variants to bind and be stabilized by Ca(2+). Secretion and processing of the FAF variants by furin can be uncoupled by blocking the convergence of the exocytic pathway transporting plasma gelsolin and the endocytic recycling of furin. We propose that coincidence of membrane trafficking pathways contributes to the development of proteolysis-initiated amyloid disease. (+info)

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (2/67)

BACKGROUND: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A alpha-chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential diagnosis of systemic amyloidosis unless there is a family history. METHODS: We studied 350 patients with systemic amyloidosis, in whom a diagnosis of the light-chain (AL) type of the disorder had been suggested by clinical and laboratory findings and by the absence of a family history, to assess whether they had amyloidogenic mutations. RESULTS: Amyloidogenic mutations were present in 34 of the 350 patients (9.7 percent), most often in the genes encoding fibrinogen A alpha-chain (18 patients) and transthyretin (13 patients). In all 34 of these patients, the diagnosis of hereditary amyloidosis was confirmed by additional investigations. A low-grade monoclonal gammopathy was detected in 8 of the 34 patients (24 percent). CONCLUSIONS: A genetic cause should be sought in all patients with amyloidosis that is not the reactive systemic amyloid A type and in whom confirmation of the AL type cannot be obtained. (+info)

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. (3/67)

BACKGROUND: Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. In this study we have characterized FMF and TRAPS genotypes in 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks. METHODS: Mutations of the MEFV and TNFRSF1A genes, responsible respectively for FMF and TRAPS, were searched for by amplifying, using polymerase chain reaction (PCR), genomic DNA, and direct sequencing. RESULTS: Twenty-seven patients (71%) carried mutations in MEFV (22 patients with two mutations, two patients with a single mutation) or TNFRSF1A genes (three patients). Patients with MEFV mutations belonged to the classical at-risk ethnic group for FMF: Sephardic Jews, Turks, Armenians, and Arabs from the Maghreb. The main genotype encountered was M694V/M694V (19/22), one Turkish patient was M680I/M680I, and two Arab patients from the Maghreb were M694I/M694I. We found three Caucasian patients with the C55S, C70Y, R92Q mutations in the TNFRSF1A gene. CONCLUSIONS: In this series we observed that FMF is the main cause of AA amyloidosis in Sephardic Jews and Turks. MEFV and TNFRSF1A mutations were found in only 6 of 14 Arab patients from the Maghreb. We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s). The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever. (+info)

Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). (4/67)

Light chain-associated amyloidosis (AL) is a plasma cell dyscrasia in which the secreted monoclonal immunoglobulin (Ig) light chains form amyloid fibrils. There is considerable heterogeneity in clinical presentation, and prognosis of the disease relates to the severity of organ dysfunction induced by amyloid deposits. The mechanisms by which the amyloid fibrils are deposited as well as the predilection for specific organ sites have not been clearly elucidated. This study characterizes the repertoire of immunoglobulin light chain variable genes used by the clonal B cell in AL amyloid patients, and the association of light chain variable region (VL) genes with clinical presentation and outcome is assessed in 58 (32 lambda and 26 kappa) patients. A preferential use of VL germ-line genes was noted for both AL kappa and lambda patients. There was a significant correlation between the use of the Vlambda VI germ-line donor, 6a, and renal involvement as well as the Vlambda III gene, 3r, with soft-tissue AL. The use of a biased VL gene repertoire also correlated with clinical outcome, revealing important trends for predicting prognosis. The use of Vlambda II germ-line genes was associated with cardiac amyloidosis and affected survival adversely. The presence of multiple myeloma also correlated with a poor prognosis. The presence of renal disease, on the other hand, was associated with improved survival. Therefore, identification of the clonal VL gene in AL has important implications in determining clinical outcome. (+info)

Simulations of human lysozyme: probing the conformations triggering amyloidosis. (5/67)

A natural mutant of human lysozyme, D67H, causes hereditary systemic nonneuropathic amyloidosis, which can be fatal. In this disease, insoluble beta-stranded fibrils (amyloids) are found in tissues stemming from the aggregation of partially folded intermediates of the mutant. In this study, we specifically compare the conformation and properties of the structures adopted from the induced unfolding, at elevated temperature, using molecular dynamics. To increase the sampling of the unfolding conformational landscape, three 5 ns trajectories are performed for each of the wild-type and mutant D67H proteins resulting in a total of 30 ns simulation. Our results show that the mutant unfolds slightly faster than the wild-type with both wild-type and mutant proteins losing most of their native secondary structure within the first 2 ns. They both develop random transient beta-strands across the whole polypeptide chain. Clustering analysis of all the conformations shows that a high population of the mutant protein conformations have a distorted beta-domain. This is consistent with experimental results suggesting that this region is pivotal in the formation of conformations prone to act as "seeds" for amyloid fiber formation. (+info)

Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (6/67)

Familial transthyretin amyloidosis (ATTR) is an autosomal dominant disorder associated with a variant form of the plasma carrier protein transthyretin (TTR). Amyloid fibrils consisting of variant TTR, wild-type TTR, and TTR fragments deposit in tissues and organs. The diagnosis of ATTR relies on the identification of pathologic TTR variants in plasma of symptomatic individuals who have biopsy proven amyloid disease. Previously, we have developed a mass spectrometry-based approach, in combination with direct DNA sequence analysis, to fully identify TTR variants. Our methodology uses immunoprecipitation to isolate TTR from serum, and electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry (MS) peptide mapping to identify TTR variants and posttranslational modifications. Unambiguous identification of the amino acid substitution is performed using tandem MS (MS/MS) analysis and confirmed by direct DNA sequence analysis. The MS and MS/MS analyses also yield information about posttranslational modifications. Using this approach, we have recently identified a novel pathologic TTR variant. This variant has an amino acid substitution (Phe --> Cys) at position 33. In addition, like the Cys10 present in the wild type and in this variant, the Cys33 residue was both S-sulfonated and S-thiolated (conjugated to cysteine, cysteinylglycine, and glutathione). These adducts may play a role in the TTR fibrillogenesis. (+info)

Safety of colchicine therapy during pregnancy. (7/67)

QUESTION: A 27-year-old patient in our clinic with familial Mediterranean fever (FMF) has been treated with colchicine for the last decade. She is planning her first pregnancy. What recommendations should we give her regarding use of colchicine before and during pregnancy, bearing in mind that discontinuation of colchicine could lead to complications from amyloidosis? ANSWER: Colchicine passes through the placenta in humans, is teratogenic in animals, and raises rates of male and female infertility. Based on several patients with chromosomal anomalies, some authorities recommend that patients who require colchicine therapy during pregnancy undergo amniocentesis with karyotyping. In contrast, an increasing body of evidence suggests that colchicine use throughout pregnancy carries no substantial teratogenic or mutagenic risk when used at recommended doses. Its use prevents febrile attacks of FMF and reduces the frequency of renal complications. (+info)

Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. (8/67)

Type I familial amyloidotic polyneuropathy (FAP), a systemic amyloidosis, is characterized by aggregation of variant transthyretin (TTR Val30Met) into stable, insoluble fibrils. This aggregation is caused by genetic and environmental factors. Genetic factors have been studied extensively. However, little is known about environmental or physiological factors involved in the disease process, and their identification may be important for development of effective treatment. X-ray crystallography of normal and amyloidogenic human TTR Val30Met in type I FAP showed that the -SH side chain of cysteine at position 10 (Cys10) forms a hydrogen bond with Gly57 in normal TTR but not in TTR Val30Met. This result suggests a crucial role for the free Cys10 residue and possible involvement of physiological factors affecting Cys residue reactivity in TTR amyloidogenesis. To analyze amyloidogenesis in vivo, our group generated murine FAP models by transgenic technology, with human TTR Val30Met. The three lines of transgenic mice expressed amyloidogenic mutant TTR (Cys10/Met30), wild-type TTR (Cys10/Val30), and artificial Cys-free mutant TTR (Ser10/Met30). Histochemical investigation showed deposition of amyloid derived from human TTR only in amyloidogenic mutant TTR (Cys10/Met30) mice. Thus, the -SH residue in Cys10 plays a crucial role in TTR Val30Met amyloidogenesis in vivo. These data suggest the possibility of innovative treatment via physiological factors modulating Cys10 residue reactivity. (+info)

... 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 ...

https://en.wikipedia.org/wiki/Familial_renal_amyloidosis

... (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an ... "The role of gelsolin domain 3 in familial amyloidosis (Finnish type)". Proceedings of the National Academy of Sciences. 116 (28 ... "Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2". Proceedings of the ... Familial amyloid neuropathy type IV Familial amyloidotic polyneuropathy (FAP) type IV Lattice corneal dystrophy, gelsolin type ...

https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type

Familial Mediterranean Fever. Springer. 2015-03-19. ISBN 978-3319146157. Diego Real de Asúa; Ramón Costa; Jose María Galván; ... 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 ... AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in ...

https://en.wikipedia.org/wiki/AA_amyloidosis

The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial ... Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation. In 2011 the European ... Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis. ... Senile systemic amyloidosis [abbreviated "SSA"] is also associated with transthyretin aggregation.) "FAP-III" is also known as ...

https://en.wikipedia.org/wiki/Familial_amyloid_neuropathy

... familial, and localized amyloidosis. The modern era of amyloidosis classification began in the late 1960s with the development ... Congo Red Amyloidosis, blood vessels, H&E Amyloidosis, lymph node, H&E Amyloidosis, lymph node, polarizer Cardiac amyloidosis. ... Amyloidosis Foundation, Amyloidosis Support Groups, and Amyloidosis Australia. Prognosis varies with the type of amyloidosis ... amyloidosis in adults. People affected by amyloidosis are supported by organizations, including the Amyloidosis Research ...

https://en.wikipedia.org/wiki/Amyloidosis

Thus, Senile systemic amyloidosis and familial amyloid polyneuropathy are often treatable diseases that are misdiagnosed. ... 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 ... Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and ...

https://en.wikipedia.org/wiki/Familial_amyloid_cardiomyopathy

Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine. A Case-Control Study in Armenia. Medical Principles ... Khachadurian AK, Armenian HK: Familial Paroxysmal Polyserositis. Mode of Inheritance and Incidence of Amyloidosis. Proceedings ... Khachadurian AK, Armenian HK: The Management of Familial Paroxysmal Polyserositis (Familial Mediterranean Fever). Experience ... Familial aggregation of fainting in a case-control study of neurally mediated hypotension patients who present with unexplained ...

https://en.wikipedia.org/wiki/Haroutune_Armenian

... hereditary transthyretin amyloidosis, familial amyloid polyneuropathy (FAP), and familial amyloid cardiomyopathy (FAC). TTR ... Zeldenrust SR, Benson MD (2010). "Familial and senile amyloidosis caused by transthyretin". In Ramirez-Alvarado M, Kelly JW, ... GeneReviews/NIH/NCBI/UW entry on Familial Transthyretin Amyloidosis (CS1 maint: uses authors parameter, Articles with short ... Treatment of familial (hereditary) TTR amyloid disease has historically relied on liver transplantation as a crude form of gene ...

https://en.wikipedia.org/wiki/Transthyretin

Partington MW, Marriott PJ, Prentice RS, Cavaglia A, Simpson NE (1981). "Familial cutaneous amyloidosis with systemic ...

https://en.wikipedia.org/wiki/X-linked_reticulate_pigmentary_disorder

... , also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis ... GeneReviews/NIH/NCBI/UW entry on Familial Transthyretin Amyloidosis (CS1: long volume value, Articles with short description, ... It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in ... FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary ...

https://en.wikipedia.org/wiki/Familial_amyloid_polyneuropathy

Muckle TJ (April 1962). "Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome". The Quarterly Journal of ... In addition, the prolonged inflammation can lead to deposition of proteins in the kidney, a condition known as amyloidosis.[ ... MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease-in ... Familial cold urticaria, a similar disease List of cutaneous conditions NOMID, a similar disease Urticarial syndromes CINCA ...

https://en.wikipedia.org/wiki/Muckle–Wells_syndrome

... has multiple sub-types including light chain, familial, and senile. One of the most studied types is light ... This type of amyloidosis can be identified by genetic testing for protein mutation. For the diagnosis of familial cardiac ... For familial amyloidosis, ACE-inhibitors and beta-blockers can be prescribed if there is no autonomic neuropathy. Suppression ... The vast majority of familial cardiac amyloidosis still present after the age of 60. A common mutation is the TTR gene mutation ...

https://en.wikipedia.org/wiki/Cardiac_amyloidosis

Familial amyloidosis-Finnish type is associated with gelsolin amyloid (AGel). The vascular amyloid pathology characteristic of ... In familial forms of CAA, the cause of Aβ build up is likely due to increased production rather than poor clearance. Mutations ... The amyloid material is only found in the brain and as such the disease is not related to other forms of amyloidosis. CAA is ... Several familial variants exist. The condition is usually associated with amyloid beta. However, there are types involving ...

https://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy

"Familial Danish Dementia: A Novel Form of Cerebral Amyloidosis Associated with Deposition of Both Amyloid-Dan and Amyloid-Beta ... "Familial Danish Dementia: A Novel Form of Cerebral Amyloidosis Associated with Deposition of Both Amyloid-Dan and Amyloid-Beta ... Familial Danish Dementia has been reported in a single family spanning three generations, with there being nine reported cases ... Familial Danish Dementia is a rare neurodegenerative disease that is mostly hereditary and resembles Alzheimer's. The condition ...

https://en.wikipedia.org/wiki/Familial_Danish_dementia

January 2008). "Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis". Am. J. Hum. ... Primary cutaneous amyloidosis 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 ...

https://en.wikipedia.org/wiki/Primary_cutaneous_amyloidosis

"Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis". American Journal of Human ... The oncostatin M receptor is associated with primary cutaneous amyloidosis. OSM signaling via the OSMR is believed to play an ...

https://en.wikipedia.org/wiki/Oncostatin_M_receptor

One of several such mutations leads to Finnish Familial Amyloidosis, a disorder in which pGSN becomes more conformationally ... "The role of gelsolin domain 3 in familial amyloidosis (Finnish type)". Proceedings of the National Academy of Sciences. 116 (28 ...

https://en.wikipedia.org/wiki/Plasma_gelsolin

Liver transplant can treat amyloidosis if it is related to familial transthyretin. Outcomes for amyloid cardiomyopathy are ... "Cardiac amyloidosis: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2017-12-01. Liao, Ronglih; Ward, Jennifer E ... Chemotherapy can treat amyloidosis if it is related to immunoglobulins. ... Amyloidosis and Other Protein Deposition Diseases", Emery and Rimoin's Principles and Practice of Medical Genetics, Oxford: ...

https://en.wikipedia.org/wiki/Amyloid_cardiomyopathy

This accumulation leads over time to one form of familial renal amyloidosis. Plasma fibrinogen levels are similar to that seen ... Hereditary fibrinogen Aα-Chain amyloidosis is an autosomal dominant extremely rare inherited disorder caused by a mutation in ... Fibrinogen Aα-Chain amyloidosis has not associated with abnormal bleeding or thrombosis. Acquired dysfibrinogenemia is a rare ...

https://en.wikipedia.org/wiki/Fibrinogen

Amyloidosis such as familial amyloid neuropathy, AL amyloidosis, and AA amyloidosis [publication pending]. During the course of ... Castro, J.; Costa, J.; de Castro, I.; & Conceição, I. (2018). "Electrochemical skin conductance in hereditary amyloidosis ... and assessment of sweat disturbances is routine in the evaluation of amyloidosis. ESC may provide a measure of subclinical ... in the assessment of patients with familial amyloid polyneuropathy". Clinical Neurophysiology. 129 (8): 1565-1569. doi:10.1016/ ...

https://en.wikipedia.org/wiki/Electrochemical_skin_conductance

... which causes familial amyloid polyneuropathy, familial amyloid cardiomyopathy, and senile systemic amyloidosis; aggregation- ... Molecular Tweezers Targeting Transthyretin Amyloidosis. Neurotherapeutics. 2014; 11: 450-461. G Herzog, MD Shmueli, L Levi, L ...

https://en.wikipedia.org/wiki/Molecular_tweezers

Shar Peis can be affected by glomerular amyloidosis caused by deposition of amyloid in the kidneys and occurs secondary to Shar ... Familial renal disease is an uncommon cause of kidney failure in dogs and cats. Most causes are breed-related (familial) and ... A list of familial kidney diseases by dog and cat breeds is found below. Basenjis can be affected by a type of kidney tubular ... Lees G, Helman R, Homco L, Millichamp N, Hunter J, Frey M (1998). "Early diagnosis of familial nephropathy in English cocker ...

https://en.wikipedia.org/wiki/Familial_renal_disease_in_animals

Nephrol Dial Transplant 22(1):272-5. Kiuru S. (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its ... In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy ... 2007) Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. ... Hereditary gelsolin amyloidosis has originally been reported by Finnish ophthalmologist Jouko Meretoja and is known as Meretoja ...

https://en.wikipedia.org/wiki/Ardalan–Shoja–Kiuru_syndrome

"Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects". ... "The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial ... Some evidence suggests that another gene, called SAA1, can further modify the risk of developing amyloidosis among people with ... Fever and inflammation in the abdomen, chest, joints, or skin are signs of familial Mediterranean fever. Pyrin forms an ...

https://en.wikipedia.org/wiki/MEFV

Familial renal amyloidosis or AA amyloidosis, a kidney disorder due to a mutation in the AA amyloid protein gene, has been seen ... Niewold TA, van der Linde-Sipman JS, Murphy C, Tooten PC, Gruys E (September 1999). "Familial amyloidosis in cats: Siamese and ...

https://en.wikipedia.org/wiki/Abyssinian_cat

... while classified as a form of systemic amyloidosis, almost exclusively manifests clinically as renal amyloidosis. No familial ... LECT2 amyloidosis can be distinguished from AL amyloidosis, the most common form of amyloidosis (~85% of total cases), by ... the first and second most common forms the disorder were AL amyloidosis and AA amyloidosis, respectively. Amyloidosis is a ... LECT2 Amyloidosis (ALECT2) is a form of amyloidosis caused by the LECT2 protein. It was found to be the third most common (~3% ...

https://en.wikipedia.org/wiki/LECT2_amyloidosis

Prevention of amyloidosis is sometimes used in dogs with recurring episodes of Shar Pei fever. Colchicine and dimethyl ... Shar Pei fever (also called familial Shar Pei fever or FSF) is a condition seen in Shar Pei characterized by recurring fever ... It is similar to familial Mediterranean fever in humans. The cause is unknown, but it is thought to be inherited. Shar Pei ... The prognosis is guarded for Shar Pei that develop amyloidosis. Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of ...

https://en.wikipedia.org/wiki/Shar_Pei_fever

Volanesorsen was approved by the European Medicines Agency (EMA) for the treatment of familial chylomicronaemia syndrome in May ... Inotersen received FDA approval for the treatment of hereditary transthyretin-mediated amyloidosis in October 2018. The ... In January 2013 mipomersen (marketed as Kynamro) was approved by the FDA for the treatment of homozygous familial ... familial chylomicronemia syndrome, frontotemporal dementia, Fuchs' dystrophy, hepatitis B, hereditary angioedema, hypertension ...

https://en.wikipedia.org/wiki/Antisense_therapy

During his second term, Governor Casey was diagnosed with Appalachian familial amyloidosis, a rare and usually fatal liver ... during Casey's lengthy battle with amyloidosis and subsequent multiple organ transplant. Singel was born in Johnstown, ...

https://en.wikipedia.org/wiki/Mark_Singel

"Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American ... type II or Finnish type amyloidosis: associated with manifestations of systemic amyloidosis due to accumulation of gelsolin. ... type III is also described which has an onset at age 70 to 90 years and is not associated with systemic amyloidosis. In the ... Kiuru-Enari S, Keski-Oja J, Haltia M (February 2005). "Cutis laxa in hereditary gelsolin amyloidosis". Br. J. Dermatol. 152 (2 ...

https://en.wikipedia.org/wiki/Lattice_corneal_dystrophy

... progressive familial intrahepatic 1 Cholestasis, progressive familial intrahepatic 2 Cholestasis, progressive familial ... squamous cell of head and neck Carcinophobia Cardiac amyloidosis Cardiac and laterality defects Cardiac arrest Cardiac ... familial neonatal dominant form Convulsions benign familial neonatal Cooks syndrome Cooley's anemia Copper deficiency familial ... familial Cholera Cholestasis Cholestasis pigmentary retinopathy cleft palate Cholestasis, progressive familial intrahepatic ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

McMaster, M. (2003). "Familial Waldenstrom's macroglobulinemia". Seminars in Oncology. 30 (2): 146-152. doi:10.1053/sonc. ... Complications such as hyperviscosity syndrome, symptomatic sensorimotor peripheral neuropathy, systemic amyloidosis, kidney ... "Differential characteristics of Waldenström macroglobulinemia according to patterns of familial aggregation". Blood. 115 (22): ...

https://en.wikipedia.org/wiki/Waldenström_macroglobulinemia

... complications from amyloidosis. Ronald Pickvance, 86, English art historian. Bill Rompkey, 80, Canadian politician, Senator ... dies at 93 Sitwell La cofondatrice du Planning familial Evelyne Sullerot est morte (in French) (Articles with French-language ...

https://en.wikipedia.org/wiki/Deaths_in_March_2017

Familial cases are associated with autosomal-dominant inheritance. Certain symptoms are common to GSS, such as progressive ... Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P (March 2003). "Hereditary prion protein amyloidoses". Clinics in ... Collins S, McLean CA, Masters CL (September 2001). "Gerstmann-Sträussler-Scheinker syndrome,fatal familial insomnia, and kuru: ... April 1996). "Prion protein amyloidosis". Brain Pathology. 6 (2): 127-45. doi:10.1111/j.1750-3639.1996.tb00796.x. PMID 8737929 ...

https://en.wikipedia.org/wiki/Gerstmann–Sträussler–Scheinker_syndrome

... and unwanted gene silencing Kynamro was approved by the FDA in January 2013 for the treatment of homozygous familial ... was approved by the FDA in October 2018 for the treatment of hereditary transthyretin amyloidosis (hATTR). The chemical ...

https://en.wikipedia.org/wiki/Gapmer

WAYLIVRA™ is approved in the European Union for the treatment of familial chylomicronemia syndrome (FCS). TEGSEDI® (inotersen) ... for the treatment of stage 1 or 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR). PTC has ...

https://en.wikipedia.org/wiki/PTC_Therapeutics

... familial cutaneous amyloidosis, Partington amyloidosis, Partington cutaneous amyloidosis, Partington syndrome type II, ... Familial benign chronic pemphigus (familial benign pemphigus, Hailey-Hailey disease) Fanconi syndrome (familial pancytopenia, ... Familial defective apolipoprotein B-100 Familial dysbetalipoproteinemia (broad beta disease, remnant removal disease) Familial ... Familial alpha-lipoprotein deficiency (Tangier disease) Familial amyloid polyneuropathy Familial apoprotein CII deficiency ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

First Therapy Approved in the European Union for the Rare and Fatal Neurodegenerative Disease Transthyretin Familial Amyloid ... "Structure-based design of kinetic stabilizers that ameliorate the transthyretin amyloidoses". Curr. Opin. Struct. Biol. 20 (1 ... small molecule that has been approved by several international regulatory agencies for the treatment of Transthyretin Familial ...

https://en.wikipedia.org/wiki/Chemical_chaperone

SIAT9 Amyloidosis, 3 or more types; 105200; APOA1 Amyloidosis, Finnish type; 105120; GSN Amyloidosis, hereditary renal; 105200 ... PTHR1 Familial cold autoinflammatory syndrome 2; 611762; NALP12 Familial Mediterranean fever, AD; 134610; MEFV Familial ... familial, 3A; 604403; SCN1A Febrile convulsions, familial, 3B; 604403; SCN9A Febrilel, convulsions, familial; 611277; GABRG2 ... familial, 3; 607554; KCNQ1 Atrial fibrillation, familial, 4; 611493; KCNE2 Atrial fibrillation, familial, 6; 612201; NPPA ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

... familial Osteitis deformans osteo: bone Osteoarthritis Osteoarthropathy of fingers familial Osteochondritis deformans juvenile ... of nervous system and meninges Osteosclerosis autosomal dominant Worth type Osteosclerosis Osteocytes Ostertag type amyloidosis ... Osteocraniostenosis Osteodysplasia familial Anderson type Osteodysplastic dwarfism Corsello type Osteoectasia familial ... familial bilateral Optic neuritis Optic pathway glioma Opticoacoustic nerve atrophy dementia Oral facial digital syndrome type ...

https://en.wikipedia.org/wiki/List_of_diseases_(O)

... familial amyloidosis) Inherited arrhythmic syndromes (congenital long QT syndrome, short QT syndrome, Brugada syndrome) Non- ... Four types of genetic disorder are associated with atrial fibrillation: Familial AF as a monogenic disease Familial AF ... familial AF associated with genetic backgrounds (polymorphism in the ACE gene) that may predispose to atrial fibrillation ... "Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation". Nature ...

https://en.wikipedia.org/wiki/Atrial_fibrillation

They are also implicated in some forms of systemic amyloidosis including AA amyloidosis that develops in humans and animals ... It has been recognized that prion diseases can arise in three different ways: acquired, familial, or sporadic. It is often ... AA amyloidosis, like prion disease, may be transmissible. This has given rise to the 'prion paradigm', where otherwise harmless ... Murakami T, Ishiguro N, Higuchi K (March 2014). "Transmission of systemic AA amyloidosis in animals". Veterinary Pathology. 51 ...

https://en.wikipedia.org/wiki/Prion

In Familial Mediterranean fever (FMF), a mutation in the pyrin (or marenostrin) gene, which is expressed mainly in neutrophil ... amyloidosis. Hyperglycemia can lead to neutrophil dysfunction. Dysfunction in the neutrophil biochemical pathway ... Ozen S (July 2003). "Familial mediterranean fever: revisiting an ancient disease". European Journal of Pediatrics. 162 (7-8): ...

https://en.wikipedia.org/wiki/Neutrophil

... and amyloidosis Fabry disease Familial cold urticaria Familial Mediterranean fever Hyperimmunoglobulinemia D and periodic fever ... Muckle-Wells syndrome Tumor necrosis factor receptor-associated periodic syndrome (familial Hibernian fever) Type V ...

https://en.wikipedia.org/wiki/Fever_of_unknown_origin

Some of these diseases are mainly sporadic and only a few cases are familial. Others are only familial. Some are iatrogenic as ... 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. ...

https://en.wikipedia.org/wiki/Amyloid

It is also used in the treatment of familial Mediterranean fever, in which it reduces attacks and the long-term risk of ... and amyloidosis. Research regarding the efficacy of colchicine in many of these diseases has not been performed. ... URL Pharma also received seven years of market exclusivity for Colcrys in the treatment of familial Mediterranean fever, under ... On 30 July 2009, the FDA approved colchicine as a monotherapy for the treatment of three different indications (familial ...

https://en.wikipedia.org/wiki/Colchicine

Amyloidosis (see endocrinological involvement) secondary to Crohn's disease has been described and is known to affect the ... Yang H, McElree C, Roth MP, Shanahan F, Targan SR, Rotter JI (April 1993). "Familial empirical risks for inflammatory bowel ...

https://en.wikipedia.org/wiki/Crohn's_disease

5 July 2018). "Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis". New England Journal of Medicine. 379 ... announced that positive results from phase III efficacy studies deemed inclisiran was a treatment for heterozygous familial ... and hereditary ATTR amyloidosis as well as other cardiometabolic diseases such as hypertension and non-alcoholic ... Mutations in this gene may cause the misfolding of a protein responsible for hereditary ATTR amyloidosis. To achieve ...

https://en.wikipedia.org/wiki/RNA_interference

Tumors of the lung and oral cavity, and liver cancer Hypoproteinemia and amyloidosis, which can lead to kidney failure and ... Axillary hyperhidrosis, apocrine bromhidrosis, hidradenitis suppurativa, and familial benign pemphigus: surgical approach. In: ... Other stage III chronic sequelae may also include anemia, multilocalized infections, amyloidosis, and arthropathy. Stage III ...

https://en.wikipedia.org/wiki/Hidradenitis_suppurativa

Secondary disorders can be divided into familial disorders, acquired disorders, and those related to other clinical entities.[ ... "Adult Fanconi's syndrome with renal tubular acidosis in association with renal amyloidosis: occurrence in a patient with ... Secondary Disorders Familial disorders Cystinosis Galactosemia Glycogen storage disease (type I) Hereditary fructose ... intolerance Lowe syndrome Tyrosinemia Wilson's disease Acquired disorders Amyloidosis Multiple myeloma Paroxysmal nocturnal ...

https://en.wikipedia.org/wiki/Proximal_renal_tubular_acidosis

This disparity influences the power dynamics at multiple levels of its societies, including familial, communal and political ... Jordan was diagnosed with the terminal heart disease primary amyloidosis with cardiomyopathy in December 2005, and while he ...

https://en.wikipedia.org/wiki/The_Wheel_of_Time

Differentiating Familial amyloidosis from other Diseases. Epidemiology and Demographics. Risk Factors. Screening. Natural ... To go back to the Amyloidosis landing page, click here.. Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s ... Retrieved from "https://www.wikidoc.org/index.php?title=Familial_amyloidosis&oldid=1598188" ...

https://www.wikidoc.org/index.php/Familial_amyloidosis

Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. The ... Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases ... Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases ...

https://casereports.bmj.com/content/15/11/e245764?rss=1

Familial transthyretin amyloidosis is a cardiac disorder. It results from the infiltration of the myocardium with abnormal ... Familial Transthyretin Amyloidosis Familial transthyretin amyloidosis is a predominant cardiac affectation that results from ... familial amyloid polyneuropathy) but in some cases the phenotypic expression of familial transthyretin amyloidosis can be ... Familial transthyretin amyloidosis is transmitted as an autosomal dominant trait and to date has reported about 80 pathogenic ...

https://www.tellmegen.com/en/results/monogenic-diseases/familial-transthyretin-amyloidosis

The amyloidoses are a wide range of diseases of secondary protein structure, in which a normally soluble protein forms ... 6] The clinical manifestations of severe SCA are similar to those observed in familial ATTR and in cardiac amyloidosis of the ... Familial TTR variants. Most variants that cause familial ATTR are rare, but a few are common in certain populations. TTR ... More than 100 amyloidogenic TTR variants cause systemic familial amyloidosis. The age at symptom onset, pattern of organ ...

https://emedicine.medscape.com/article/335301-overview

Hereditary amyloidosis is a condition in which abnormal protein deposits (called amyloid) form in almost every tissue in the ... Hereditary amyloidosis is passed down from parents to their children (inherited). Genes may also play a role in primary ... Amyloidosis. In: Firestein GS, Budd RC, Gabriel SE, Koretzky GA, McInnes IB, ODell JR, eds. Firestein & Kelleys Textbook of ... Hereditary amyloidosis is a condition in which abnormal protein deposits (called amyloid) form in almost every tissue in the ...

https://medlineplus.gov/ency/article/000368.htm

Title: Familial Amyloidosis of Ostertag (1). Authors: Lanham, Meltzer, De Beer, Hughes and Pepys (yes, that Pepys). Journal: ... So once again the authors knew these patients had a different type of familial amyloidosis that primarily affected the kidneys ... since it was published at a time when these forms of familial amyloidosis that primarily affects the kidneys (with no ... A 23 year old Englishman presented with keratoconjunctivitis sicca and was found to have systemic amyloidosis. Five members of ...

http://www.fibrinogenamyloidosis.com/2013/09/article-review-1982-familial.html

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. EMBO J. 2001 Nov 15. 20(22 ... Central Nervous System Amyloidoses and Other Localized Amyloidoses. Central nervous system amyloidoses. Beta protein amyloid ... Descriptive terms such as primary amyloidosis, secondary amyloidosis, and others (eg, senile amyloidosis), which are not based ... Cryopyrin-associated periodic syndrome (CAPS)-associated amyloidosis. Types of CAPS include the following:. * Familial cold ...

https://www.medscape.com/answers/335414-106030/what-is-the-role-of-beta-2m-adsorbing-columns-in-the-treatment-of-dialysis-related-amyloidosis

Test ID: TTRX Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood Reporting Name. Familial Amyloidosis Reflex ... If familial amyloidosis by liquid chromatography-mass spectrometry is abnormal, DNA sequence will be performed and charged ... Other proteins involved in other less common forms of familial amyloidosis are not examined. If no alterations are detected, ... Familial or hereditary AL is the least common form. Determining the specific type of AL is imperative in order to provide both ...

https://neurology.testcatalog.org/show/TTRX

https://emedicine.medscape.com/article/335414

Familial ATTR Amyloidosis. In Familial ATTR amyloidosis the body makes a mutant form of a protein called "transthyretin." ... Wild-Type (Senile) ATTR Amyloidosis. Similar to familial TTR amyloidosis, except the protein is the normal transthyretin ... What is Amyloidosis?. Amyloidosis is a condition where proteins in the body misfold into a shape that allows them to form into ... AA (Secondary) Amyloidosis. This type of amyloidosis is associated through a protein called "serum amyloid A." ...

https://health.ucdavis.edu/internalmedicine/cardio/cardiac-amyloidosis-program/index.html

Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation Authors: Kleefeld, Felix , Knebel, Fabian ... We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal ... Abstract: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed ... amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto- ...

https://content.iospress.com/journals/journal-of-neuromuscular-diseases/7/4?rows=100

... is called ATTR amyloidosis and mainly includes hereditary ATTR (ATTRv) amyloidosis and wil ... Amyloidosis caused by systemic deposition of transthyretin (TTR) ... Andersson R. Familial amyloidosis with polyneuropathy. A ... ATTR amyloidoses mainly includes ATTRv amyloidosis and ATTRwt amyloidosis based on the presence and absence of TTR mutations, ... ATTR amyloidosis, mainly including ATTRv amyloidosis and ATTRwt amyloidosis, is a systemic disease that necessitates ...

https://link.springer.com/article/10.1007/s40119-021-00222-w

Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis. ... Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis. ...

https://einstein.pure.elsevier.com/en/publications/memory-deficits-due-to-familial-british-dementia-bri2-mutation-ar-2/fingerprints/

Familial Hypercholesterolemia G6PD Deficiency Hereditary Amyloidosis (TTR-Related) Hereditary Hemochromatosis (HFE‑Related) ... Familial Dysautonomia Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi Anemia Group C GRACILE ... Familial Dysautonomia and our test Familial dysautonomia is a rare genetic disorder that affects many different parts of the ... Hereditary Amyloidosis (TTR-Related) and our test TTR-related hereditary amyloidosis is a genetic condition caused by the ...

https://www.23andme.com/genetic-science/

Familial Mediterranean fever. 277.31. E85.0; M04. Amyloidosis NEC. 277.39. E85.1; E85.3; E85.8. ...

https://wwwnc.cdc.gov/eid/article/26/8/19-1493-t1

Fast Five Quiz: Treatment of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis - Medscape - May 24, 2021. ... Fast Five Quiz: Treatment of Hereditary (Familial) Amyloid Transthyretin-Related (hATTR) Amyloidosis. ... are poorly tolerated in cardiac amyloidosis and should be avoided in amyloidosis. ... Individuals with hATTR amyloidosis should avoid using local heating appliances, such as hot water bottles; patients with hATTR ...

https://reference.medscape.com/viewarticle/912776_6

Amyloidosis, Fabry disease, hereditary sensory autonomic neuropathy, porphyrias. *. Genetic disorders like familial ...

https://www.ncbi.nlm.nih.gov/books/NBK430888/

Amyloidosis [C18.452.845.500]. *Amyloidosis, Familial [C18.452.845.500.075]. *Cerebral Amyloid Angiopathy, Familial [C18.452. ... A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and ... Cerebral Amyloid Angiopathy, Familial [C14.907.253.560.200.200.160]. *Congenital, Hereditary, and Neonatal Diseases and ... "Cerebral Amyloid Angiopathy, Familial" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, ...

https://connects.catalyst.harvard.edu/Profiles/display/Concept/Cerebral%20Amyloid%20Angiopathy,%20Familial

A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis. Clinical and ... A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis. Clinical and ...

https://www.cardiff.ac.uk/people/view/81248-patel-girish

Abdominal pain; Arthritis; Amyloidosis. Abdominal pain; Arthritis; Amyloidosis NM_000243.3:c.2080A,G. Homozygous. Autosomal, ... Abdominal pain; Arthritis; Amyloidosis. Abdominal pain; Arthritis; Amyloidosis NM_000243.3:c.2082G,A. Homozygous. Autosomal, ... Familial Mediterranean Fever, Autosomal Recessive*Polyserositis, Recurrent*Polyserositis, Familial Paroxysmal. Associated Genes ... Familial Mediterranean fever is caused by mutation in the MEFV gene. Over 35 mutations have been discovered so far. The 5 most ...

https://cags.org.ae/en/ctga-details/200/familial-mediterranean-fever

Familial amyloidosis, Finnish type, see Lattice corneal dystrophy type II. *Familial aortic aneurysm, see Familial thoracic ... Familial TAAD, see Familial thoracic aortic aneurysm and dissection. *Familial thoracic aortic aneurysm, see Familial thoracic ... Familial aortic dissection, see Familial thoracic aortic aneurysm and dissection. *Familial aplasia of the vermis, see Joubert ... Familial multilocular cystic disease of the jaws, see Cherubism. *Familial multiple polyposis syndrome, see Familial ...

https://medlineplus.gov/genetics/condition-f/

... also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized ... also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis ... Death is due in most cases to renal amyloidosis. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. ... Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial ...

https://www.abcam.com/hrp-apolipoprotein-a-i-antibody-ab20784.html

Macular cutaneous amyloidosis. Authoritative facts from DermNet New Zealand. ... Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet. 2010;18 ... What is macular amyloidosis? Who gets macular amyloidosis? What causes macular amyloidosis? What are the clinical features of ... What is macular amyloidosis?. Macular amyloidosis is one of three forms of primary localised cutaneous amyloidosis. A ...

https://dermnetnz.org/topics/macular-amyloidosis

Amyloidosis in Chinese Shar-pei dogs is unique because of certain similarities to familial Mediterranean fever in humans. It is ... N2 - Amyloidosis in Chinese Shar-pei dogs is unique because of certain similarities to familial Mediterranean fever in humans. ... AB - Amyloidosis in Chinese Shar-pei dogs is unique because of certain similarities to familial Mediterranean fever in humans. ... abstract = "Amyloidosis in Chinese Shar-pei dogs is unique because of certain similarities to familial Mediterranean fever in ...

https://experts.umn.edu/en/publications/aa-amyloidosis-in-chinese-shar-pei-dogs-immunohistochemical-and-a

Memory Deficits Due to Familial British Dementia BRI2 Mutation Are Caused by Loss of BRI2 Function Rather than Amyloidosis ...

https://www.jneurosci.org/content/30/44

Rarely, it is reported to occur as an inherited familial condition [2]. ... The two major forms of primary localized cutaneous amyloidosis are lichen amyloidosis and macular amyloidosis. In these ... lichen amyloidosis can be thought of as hyperkeratotic primary cutaneous amyloidosis. The two cases of lichen amyloidosis of ... The high prevalence of biphasic amyloidosis supports the notion that lichen amyloidosis and macular amyloidosis are likely ...

https://dermatology.cdlib.org/uc/item/78r2v37c

... may be systemic (affecting tissues and organs throughout the body), or it may be localized in tumourlike masses ... amyloidosis, disease characterized by the deposition of an abnormal protein called amyloid in the connective tissues and organs ... There are multiple forms of hereditary amyloidosis. One of the most common forms is known as familial amyloid polyneuropathy ( ... Secondary amyloidosis often affects the kidneys, liver, and spleen. A particular form of amyloidosis characterized by the ...

https://www.britannica.com/science/amyloidosis

Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases ...

https://blogs.bmj.com/case-reports/2012/04/18/global-health-kneeling-delivery-in-america-2000-years-ago/

... formerly familial amyloid polyneuropathy). Three different clinicopathologic forms of amyloidosis can be seen in the lungs: ... diffuse alveolar-septal amyloidosis, nodular pulmonary amyloidosis, and tracheobronchial amyloidosis. Objective.-To clarify the ... diffuse alveolar-septal amyloidosis, nodular pulmonary amyloidosis, and tracheobronchial amyloidosis. Objective.-To clarify the ... diffuse alveolar-septal amyloidosis, nodular pulmonary amyloidosis, and tracheobronchial amyloidosis. Objective.-To clarify the ...

https://mayoclinic.pure.elsevier.com/en/publications/amyloidosis-of-the-lung

Hereditary amyloidosis is a condition in which abnormal protein deposits (called amyloid) form in almost every tissue in the body. (medlineplus.gov)
Hereditary amyloidosis is passed down from parents to their children (inherited). (medlineplus.gov)
Treatment to improve the function of damaged organs will help relieve some symptoms of hereditary amyloidosis. (medlineplus.gov)
This conforms to the Ostertag type of hereditary amyloidosis. (fibrinogenamyloidosis.com)
2004). End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors . (up.pt)
Familial (hereditary) amyloidosis is a genetic form passed down in families that often affects nerves and kidneys. (stlukes-stl.com)
Hereditary amyloidosis results from genetic changes that cause the body to make abnormal proteins. (stlukes-stl.com)
With hereditary amyloidosis, DNA tests may reveal the genetic change that caused the condition. (stlukes-stl.com)

All types of amyloidosis are diagnosed definitively on the basis of demonstration of Congo red-binding material in a biopsy or autopsy specimen. (medscape.com)
Other types of amyloidosis are not inherited. (medlineplus.gov)
The most common types of amyloidosis are light chain (AL) and transthyretin (ATTR) amyloidosis. (ucdavis.edu)
There are different types of amyloidosis, which can be classified as primary, secondary, or hereditary. (britannica.com)
For information on other types of amyloidosis, see Amyloidosis . (medscape.com)

Many suspicious diagnoses of cardiac amyloidosis can be generated by echocardiographic characteristics and ECG findings, and can be confirmed with magnetic resonance imaging with delayed enhancement. (tellmegen.com)
TTR tetramer stabilizers , associated with improved survival in transthyretin cardiac amyloidosis (TTR-CA), stabilize the native TTR tetramer structure, prevent amyloid fibril formation, and delay peripheral neurologic impairment . (medscape.com)
In addition, beta-blockers, angiotensin-converting enzyme (ACE) inhibitors, and angiotensin receptor blockers (ARBs) are poorly tolerated in cardiac amyloidosis and should be avoided in amyloidosis. (medscape.com)
The diagnosis of cardiac amyloidosis is often delayed due to a lack of awareness and the necessity of biopsy to confirm the diagnosis. (lww.com)
Our objective is to emphasize the role of multimodalities imaging in reducing delays to the diagnosis of cardiac amyloidosis. (lww.com)
Cardiac amyloidosis (CA) is a protein misfolding disorder characterized by the extracellular deposition of amyloid fibrils in the myocardium. (lww.com)

The reference method for the diagnosis of amyloidosis is histological analysis and Congo red staining of biopsy specimens. (tellmegen.com)
Although histopathological confirmation of amyloid deposits has traditionally been considered mandatory for the diagnosis of ATTR amyloidosis, the development of noninvasive imaging techniques in the field of cardiology, such as echocardiography, magnetic resonance imaging, and nuclear imaging, enabled nonbiopsy diagnosis of this disease. (springer.com)
Although a histopathological confirmation of amyloid deposits has traditionally been required for the diagnosis of ATTR amyloidosis, the development of noninvasive imaging techniques enabled nonbiopsy diagnosis of this disease. (springer.com)
What is the differential diagnosis for macular amyloidosis? (dermnetnz.org)
Technetium-99m pyrophosphate (99mTc-PYP) scintigraphy, endomyocardial biopsy (EMB), and the genetic study confirmed the diagnosis of wild-type transthyretin amyloidosis (ATTRwt). (lww.com)
The nonspecific clinical manifestations, lack of diagnostic biomarkers, and the rarity of systemic amyloidosis usually lead to delayed diagnosis and treatment. (lww.com)
Immunohistochemical analysis of duodenal mucosal biopsy samples revealed AA amyloid deposition resulting in the diagnosis of AA amyloidosis. (bvsalud.org)

It can assume a subtle rippled or reticulated pattern, which resembles the 'seafloor pattern' seen in lichen amyloidosis. (dermnetnz.org)
Macular amyloidosis may co-exist with lichen amyloidosis in up to 25% of affected patients [9]. (dermnetnz.org)
The distinction between lichen amyloidosis and macular amyloidosis is related to the amount, appearance, and location of the deposition. (dermnetnz.org)
Two cases of lichen amyloidosis of the auricular concha are presented here, supplementing the already approximately twenty cases of lichen amyloidosis of the auricular concha reported to date. (cdlib.org)
In one of the two cases lichen amyloidosis of the auricular concha reported here, concomitant macular amyloidosis of the back was present. (cdlib.org)

The most severe complication of the disorder is the development of amyloidosis, leading to nephrotic syndrome and end-stage renal disease. (cags.org.ae)
Chronic or acute, recurrent, substantial elevations of SAA are necessary but not sufficient for the development of amyloidosis. (medscape.com)
Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. (who.int)

The phenotype of familial transthyretin amyloidosis varies depending on the particular TTR mutation, geographic area and type of aggregation (endemic/non-endemic). (tellmegen.com)
The two main differences between these cases (now known to be a lysozyme mutation) and the cases of fibrinogen amyloidosis are the age of onset (and death) and the number of different organs affected. (fibrinogenamyloidosis.com)
For predictive testing in cases where a familial variant is known, testing for the specific variant by DNA sequence analysis (FMTT / Familial Mutation, Targeted Testing, Varies) is recommended. (testcatalog.org)
After identification of the variant at the DNA level, predictive testing for at-risk family members can be performed by molecular analysis (FMTT / Familial Mutation, Targeted Testing, Varies). (testcatalog.org)
Familial Mediterranean fever is caused by mutation in the MEFV gene. (cags.org.ae)
An autosomal dominant inherited form of primary localised cutaneous amyloidosis has been identified in Brazilian and Chinese families due to a mutation in the OSMR gene [2,3]. (dermnetnz.org)
An autosomal dominant primary localised cutaneous amyloidosis in Taiwanese families is related to a mutation in the IL-31RA gene which encodes the protein , interleukin -31 receptor A [2]. (dermnetnz.org)
forekommer Val122Ile-mutationen i USA hos 3,4% af afroamerikanerne, og der er beskrevet en unik dansk mutation (Leu111Met), som er tæt associeret til ATTR-CM, mens evt. (ugeskriftet.dk)
Cabral-Macias J, Zenteno JC, Ramirez-Miranda A, Navas A, Bermudez-Magner JA, Boullosa-Grana VM, Graue-Hernandez EO, Buentello-Volante B. Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation . (arizona.edu)
Wild-type ATTR (ATTRwt), also called senile systemic amyloidosis, does not result from a genetic mutation in the transthyretin gene ( TTR ). (lww.com)

Most classification systems included primary (ie, in the sense of idiopathic) amyloidosis, in which no associated clinical condition was identified, and secondary amyloidosis, which is associated with chronic inflammatory conditions. (medscape.com)
Descriptive terms such as primary amyloidosis, secondary amyloidosis, and others (eg, senile amyloidosis), which are not based on etiology, provide little useful information and are no longer recommended. (medscape.com)
Secondary amyloidosis (AA) develops along with a chronic infectious or inflammatory disease, such as tuberculosis or rheumatoid arthritis. (stlukes-stl.com)
Secondary amyloidosis is usually associated with conditions of chronic inflammation such as rheumatoid arthritis or inflammatory bowel syndrome. (thailandmedical.news)

Genes may also play a role in primary amyloidosis . (medlineplus.gov)
The most common form of amyloidosis (AL) is a disease of the bone marrow called primary systemic AL (immunoglobulin light chain). (testcatalog.org)
AL (primary) amyloidosis is the most common form of the disease. (ucdavis.edu)
Macular amyloidosis is one of three forms of primary localised cutaneous amyloidosis . (dermnetnz.org)
See Primary cutaneous amyloidosis pathology . (dermnetnz.org)
Primary systemic amyloidosis is rare and occurs in the absence of underlying disease. (britannica.com)
Based on this classification scheme, the most common forms of amyloidosis include systemic AL (formerly primary), systemic AA (formerly secondary), systemic wild-type ATTR (formerly age-related or senile systemic), and systemic hereditary ATTR amyloidosis (formerly familial amyloid polyneuropathy). (elsevier.com)
Primary amyloidosis (AL), the most common form, occurs when bone marrow produces too much of certain fragments of antibody proteins, which build up in the bloodstream and can deposit in body tissues. (stlukes-stl.com)
I say this because it is a part of my Primary Familial Systemic AL Amyloidosis in the cerebral cortex. (mayoclinic.org)
Renal transplantation has been performed in various hereditary, primary, and secondary amyloidoses. (utmb.edu)
The treatments used in primary amyloidosis are the same as those used to treat multiple myeloma and include chemotherapy, corticosteroids and proteosome inhibitors. (thailandmedical.news)
An agent called bortezomib, one of a relatively new class of drugs called the proteosome inhibitors, has been shown to be effective in the treatment of primary amyloidosis and examples of the corticosteroid medications used include lenalidomide and thalidomide. (thailandmedical.news)
Given the lack of currently available agents that directly target amyloid deposits, the major therapeutic strategy in AA amyloidosis is the use of agents that strongly suppress the inflammation caused by the primary disease. (medscape.com)
The guideline update on primary systemic light chain amyloidosis (SLCA) was released in January 2023 by the National Comprehensive Cancer Network. (medscape.com)
For more information, see Primary Systemic Amyloidosis . (medscape.com)

Increasing evidence supports a key role for inflammation in the neurodegenerative process of familial amyloidotic polyneuropathy (FAP). (biomedcentral.com)
Transthyretin (TTR) variants are associated with hereditary amyloidoses, clinically termed familial amyloidotic polyneuropathy (FAP) or cardiomyopathy when point mutations in the TTR gene result in protein deposition in the peripheral nervous system (PNS) or heart, respectively [ 1 ]. (biomedcentral.com)
2010). Erythropoietin production by distal nephron in normal and familial amyloidotic adult human kidneys . (up.pt)
Familial amyloidotic polyneuropathy (FAP) is one of the transthyretin (TTR) amyloidoses characterized by extracellular amyloid deposits and peripheral nerve involvement. (jnss.org)
This cross-sectional study investigated depression as the middle- (4 years) and long-term (7 and 10 years) psychological impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington's disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic polyneuropathy (FAP) TTR V30M. (bvsalud.org)

ABSTRACT Familial Mediterranean fever is quite prevalent among Arabs. (who.int)
abstract = "Amyloid nephropathy is an unusual manifestation of hereditary gelsolin amyloidosis and may present with proteinuria and progressive renal failure. (utmb.edu)

Diffuse alveolar-septal amyloidosis is usually caused by systemic AL amyloidosis, whereas nodular pulmonary amyloidosis and tracheobronchial amyloidosis usually represent localized AL amyloidosis. (elsevier.com)

Familial transthyretin amyloidosis is transmitted as an autosomal dominant trait and to date has reported about 80 pathogenic mutations in the TTR gene (18q12.1). (tellmegen.com)
Familial or hereditary transthyretin AL is an autosomal dominant disorder caused by variants in the transthyretin gene ( TTR ). (testcatalog.org)

The amyloidoses are a group of diseases that result from the abnormal deposition of amyloid in various tissues of the body. (testcatalog.org)
Amyloidosis is a heterogeneous group of diseases characterized by the deposition of congophilic amyloid fibrils in the extracellular matrix of tissues and organs. (elsevier.com)
Amyloidosis is a group of diseases in which a protein called amyloid builds up in the organs and tissues. (stlukes-stl.com)
Amyloidosis comprises a heterogeneous group of diseases in which normally soluble plasma proteins are deposited in the extracellular space in an abnormal, insoluble, fibrillar form. (medscape.com)
[ 2 ] AA amyloidosis occurs in the course of chronic inflammatory diseases (infectious and noninfectious), hereditary periodic fevers, and with certain neoplasms, such as Hodgkin lymphoma and renal cell carcinoma . (medscape.com)
Diseases in which there is a familial pattern of AMYLOIDOSIS . (bvsalud.org)

Evidence-based recommendations on vutrisiran (Amvuttra) for treating hereditary transthyretin-related amyloidosis in adults. (bvsalud.org)

Three different clinicopathologic forms of amyloidosis can be seen in the lungs: diffuse alveolar-septal amyloidosis, nodular pulmonary amyloidosis, and tracheobronchial amyloidosis. (elsevier.com)
Heart problems -- this is rare, and less severe than in other forms of amyloidosis. (stlukes-stl.com)

Novel disease-modifying therapies for ATTR amyloidosis, such as TTR stabilizers, short interfering RNA, and antisense oligonucleotides, were initially approved for ATTRv amyloidosis patients with polyneuropathy. (springer.com)
Although novel disease-modifying therapies for ATTR amyloidosis, such as TTR stabilizers and gene silencing agents, were initially approved for ATTRv amyloidosis patients with polyneuropathy, the indications for the use of these novel disease-modifying therapies gradually widened to include ATTRv and ATTRwt amyloidosis patients with cardiomyopathy. (springer.com)

The kidney biopsy did show amyloid deposits in the glomeruli, which is consistent with what is seen in the kidney biopsies of patients with fibrinogen amyloidosis. (fibrinogenamyloidosis.com)
2004). Kidney and anemia in familial amyloidosis type I . Kidney international, 66 (5), 2004 - 2009. (up.pt)
Beta2-microglobulin amyloidosis occurs in people with kidney failure who have been on dialysis for a long time (beta2 -microglobulin is a protein that can build up in the blood as a result of kidney failure). (stlukes-stl.com)
The major sites of involvement in AA amyloidosis are the kidney, liver, and spleen. (medscape.com)

In Familial ATTR amyloidosis the body makes a mutant form of a protein called "transthyretin. (ucdavis.edu)
Amyloidosis caused by systemic deposition of transthyretin (TTR) is called ATTR amyloidosis and mainly includes hereditary ATTR (ATTRv) amyloidosis and wild-type ATTR (ATTRwt) amyloidosis. (springer.com)
As older age and cardiovascular disease are major factors associated with increased disease severity and mortality of COVID-19, many ATTR amyloidosis patients are at increased risk of disease aggravation when they are infected with SARS-CoV-2. (springer.com)
From this viewpoint, close interspecialty communication to determine the optimal interval of evaluation is needed for the management of patients with ATTR amyloidosis. (springer.com)

The treatment approach to amyloidosis depends on the type of amyloidosis a patient has as well as their current state of health. (thailandmedical.news)

Although there are published reports of fibrinogen amyloidosis patients having amyloid deposits in other organs, these are typically only found long after a patient has presented with renal impairment. (fibrinogenamyloidosis.com)
Only 10% of amyloidosis deposits consist of components such as glycosaminoglycans (GAGs), apolipoprotein-E (apoE), and serum amyloid P-component (SAP), while nearly 90% of the deposits consist of amyloid fibrils that are formed by the aggregation of misfolded proteins. (medscape.com)
Certain calcium channel blockers should be avoided in patients with hATTR amyloidosis due to accumulation within the amyloid deposits, increasing the risk for cardiac complications. (medscape.com)
A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. (harvard.edu)
It is also of interest that renal amyloid deposits in Shar-peis are known to predominate commonly in the medullary interstitium while glomerular amyloidosis is the characteristic clinicopathologic feature in other dog breeds. (umn.edu)
The signs and symptoms of amyloidosis depend on the location and size of the amyloid deposits. (stlukes-stl.com)

Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. (bmj.com)
Amyloidosis is a clinical disorder caused by extracellular and/or intracellular deposition of insoluble abnormal amyloid fibrils that alter the normal function of tissues. (medscape.com)
Familial Mediterranean fever is an autosomal recessive disorder mostly prevalent in Mediterranean populations. (cags.org.ae)
Familial Mediterranean Fever (FMF) is a genetic disorder that causes brief recurrent episodes of fever, peritonitis , pleuritis , and arthritis . (symptoma.com)
Overview Familial Mediterranean fever is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, lungs and joints. (symptoma.com)

As the abnormal protein responsible familial transthyretin amyloidosis occurs almost exclusively in the liver, the only established therapy for this disease is orthotopic liver transplantation, which provides a "surgical gene therapy" for amyloid cardiomyopathy patients. (tellmegen.com)
Until recently, ATTRv amyloidosis had been considered a disease in the field of neurology because neuropathic symptoms predominated in patients described in early reports, whereas advances in diagnostic techniques and increased recognition of this disease revealed the presence of patients with cardiomyopathy as a predominant feature. (springer.com)
However, the indications for the use of these disease-modifying therapies gradually widened to include ATTRv and ATTRwt amyloidosis patients with cardiomyopathy. (springer.com)
Tafamidis (Vyndamax) and tafamidis meglumine (Vyndaqel) are oral transthyretin stabilizers used in the treatment of the heart disease (cardiomyopathy) caused by transthyretin-mediated amyloidosis (ATTR-CM) in adult patients. (medscape.com)
Amyloidosis cardiomyopathy is a rare and underdiagnosed disease characterized by amyloid fibril deposition in the myocardium. (lww.com)

RESULTS: Fifty-four patients were evaluated (14 familial cold autoinflammatory syndrome, 27 Muckle-Wells syndrome, 7 chronic infantileneurological cutaneous and articular syndrome. (bvsalud.org)

Familial transthyretin amyloidosis is a predominant cardiac affectation that results from the infiltration into the myocardium of abnormal amyloid protein. (tellmegen.com)
Mayo Clinic Laboratories recommends a testing strategy that includes both protein analysis by mass spectrometry (MS) and TTR gene analysis by DNA sequencing for patients in whom TTR-associated familial AL is suspected. (testcatalog.org)
Similar to familial TTR amyloidosis, except the protein is the normal transthyretin protein. (ucdavis.edu)
Amyloidosis is caused by the deposition of amyloid fibrils composed of misfolded protein in various organs. (springer.com)
amyloidosis , disease characterized by the deposition of an abnormal protein called amyloid in the connective tissues and organs of the body that inhibits normal functioning. (britannica.com)
To clarify the relationship between the fibril protein-based amyloidosis classification system and the clinicopathologic forms of pulmonary amyloidosis and to provide a useful guide for diagnosing these entities for the practicing pathologist. (elsevier.com)
Because the treatment options for amyloidosis are dependent on the fibril protein-based classifications and whether the process is systemic or localized, the workup of new clinically relevant cases should include amyloid subtyping (preferably with mass spectrometry-based proteomic analysis) and further clinical investigation. (elsevier.com)
Two common conditions associated with localized amyloidosis are type 2 diabetes (where protein builds up in the pancreas) and Alzheimer's disease (where protein builds up in the brain). (stlukes-stl.com)
The tissue fibril involved in AA amyloidosis consists of a 7500-dalton cleavage product of the SAA protein. (medscape.com)

The only way your doctor can definitively diagnose amyloidosis is using a needle to remove a small amount of tissue to test for amyloid (called a biopsy). (stlukes-stl.com)

2008). Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition: A clinicopathologic study of twelve cases . (up.pt)
The United States is a major exception to this in that the immunoglobulin-related amyloid light chain type (AL) of amyloidosis is more frequent than AA as the cause of systemic amyloid deposition. (medscape.com)

Who gets macular amyloidosis? (dermnetnz.org)
Most cases of macular amyloidosis arise in early adulthood. (dermnetnz.org)
There is a higher incidence of macular amyloidosis in people of Asian, Middle Eastern, and South American descent than in people of European and North American descent [1]. (dermnetnz.org)
Up to 10% of cases of macular amyloidosis are familial in origin. (dermnetnz.org)
What causes macular amyloidosis? (dermnetnz.org)
The precise cause of macular amyloidosis is uncertain, although there appears to be an interplay between genetic and environmental factors that is triggered by prolonged periods of friction, rubbing, or scratching of the affected region. (dermnetnz.org)
What are the clinical features of macular amyloidosis? (dermnetnz.org)
Macular amyloidosis is generally pruritic , although the degree of pruritus varies from mild to severe. (dermnetnz.org)
How is macular amyloidosis diagnosed? (dermnetnz.org)
Combined cases of lichen and macular amyloidosis are termed biphasic amyloidosis, and provide support to the theory that these two variants of amyloidosis exist on the same disease spectrum. (cdlib.org)

Two disease phenotypes have been identified, whether amyloidosis appears years after the appearance of the other clinical signs (phenotype I), or whether it is the first or the only familial Mediterranean fever presenting sign (phenotype II), which is less frequent. (cags.org.ae)
We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications. (who.int)
Most clinical presentations of CA are due to transthyretin amyloidosis (ATTR) or light chain (AL) amyloidosis. (lww.com)
Gastrointestinal involvement was the main clinical manifestation of AA amyloidosis in the present case. (bvsalud.org)

Amyloidosis results from the accumulation of pathogenic amyloids-most of which are aggregates of misfolded proteins-in a variety of tissues. (medscape.com)
Amyloidosis may be systemic (affecting tissues and organs throughout the body), or it may be localized in tumourlike masses within certain organs. (britannica.com)

Amyloidosis in Chinese Shar-pei dogs is unique because of certain similarities to familial Mediterranean fever in humans. (umn.edu)
Familial Mediterranean fever (FMF) is an autosomal recessive familial paroxysmal polyserositis of unknown pathogenesis [1]. (who.int)
Familial Mediterranean fever is a hereditary autoinflammatory disease, mainly characterized by periodic fever and serositis. (symptoma.com)
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. (symptoma.com)
Cardiovascular disease (CVD) remains underestimated in familial Mediterranean fever-associated AA amyloidosis (FMF-AA). (uwo.ca)
IMSEAR at SEARO: Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt. (who.int)
BACKGROUND: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. (who.int)

This article describes yet another kindred with several family members who presented with renal amyloidosis, in which the amyloid appears to be different than that found in AL amyloidosis. (fibrinogenamyloidosis.com)

Historical classification systems for amyloidosis were clinically based. (medscape.com)

Other proteins involved in other less common forms of familial amyloidosis are not examined. (testcatalog.org)
Amyloidosis is a condition where proteins in the body misfold into a shape that allows them to form into amyloid fibrils and deposit in organs throughout the body. (ucdavis.edu)
Different proteins may cause amyloidosis. (ucdavis.edu)
To date, 31 fibril proteins have been identified in humans, and it is now recommended that amyloidoses be named after these fibril proteins. (elsevier.com)
This rare form of amyloidosis is caused by inherited mutations in genes that make the proteins that form fibrils. (thailandmedical.news)

It is used to treat adults with stage 1 and 2 peripheral nerve disease (polyneuropathy), as well as polyneuropathy caused by hATTR amyloidosis in adult patients. (medscape.com)
Patisiran (Onpattro), an RNA interference therapeutic infusion for the treatment of polyneuropathy caused by hATTR amyloidosis in adult patients. (medscape.com)

We report the first case of renal transplantation in a patient with hereditary gelsolin amyloidosis complicated by end-stage renal disease. (utmb.edu)

In developing countries, the most common instigator of AA amyloidosis is chronic infection. (medscape.com)
Amyloid A (AA) amyloidosis secondary to a chronic inflammation induces multiple organ dysfunctions, including a dysfunction of the gastrointestinal tract. (bvsalud.org)

These NCCN Guidelines Insights focus on some of the updates for the 2022 version of the NCCN Guidelines, which include treatment recommendations both for lower-risk and higher-risk MDS, emerging therapies, supportive care recommendations, and genetic familial high-risk assessment for hereditary myeloid malignancy predisposition syndromes. (nccn.org)

It still has some importance in the history of fibrinogen amyloidosis, since it was published at a time when these forms of familial amyloidosis that primarily affects the kidneys (with no neuropathy) were first being described. (fibrinogenamyloidosis.com)

ATTR amyloidoses mainly includes ATTRv amyloidosis and ATTRwt amyloidosis based on the presence and absence of TTR mutations, respectively. (springer.com)
Autosomal recessive corneal amyloidosis results from multiple mutations in the M1S1 (TACSTD2) gene located on chromosome 1 (1p32). (arizona.edu)

More than 90 variants that cause TTR-associated familial AL have now been identified within the TTR gene. (testcatalog.org)
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. (medscape.com)

Some studies suggest that certain phenotypic expressions, such as of M694V/M694V homozygous, are more likely to have involvement of arthritis, renal amyloidosis, erysipelas-like skin lesions, oral lesions, higher fever, and splenomegaly . (symptoma.com)

2007). Liver transplantation and anemia in familial amyloidosis ATTR V30M . (up.pt)
2015). Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis . (up.pt)

GDLD seems to occur more commonly in Japan but often has a much later onset and the lattice appearance is more striking suggesting that it may be a unique form of corneal amyloidosis. (arizona.edu)
Cataracts have been reported in several young individuals with corneal amyloidosis. (arizona.edu)

Mutated transthyretin is associated with the formation of amyloid fibrils, leading to the development of TTR-related amyloidosis (ATTR). (medscape.com)
The modern era of amyloidosis classification began in the late 1960s with the development of methods to solubilize amyloid fibrils. (medscape.com)

Amyloidosis is mostly prevalent among Sephardic Jews. (symptoma.com)

Organisms1

Diseases14

Chemicals and Drugs12

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Information Science1

Health Care1

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. (1/67)

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (2/67)

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. (3/67)

Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). (4/67)

Simulations of human lysozyme: probing the conformations triggering amyloidosis. (5/67)

Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (6/67)

Safety of colchicine therapy during pregnancy. (7/67)

Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. (8/67)

Amyloidosis

Amyloidosis, Familial

Amyloid

Serum Amyloid A Protein

Prealbumin

Immunoglobulin Light Chains

Familial Mediterranean Fever

Amyloid Neuropathies

Congo Red

Amyloid Neuropathies, Familial

Cardiomyopathies

beta 2-Microglobulin

Serum Amyloid P-Component

Nephrotic Syndrome

Paraproteinemias

Tracheal Diseases

Kidney Diseases

Macroglossia

Amyloidogenic Proteins

Melphalan

Bence Jones Protein

Biopsy

Acinonyx

Immunoglobulin lambda-Chains

Gelsolin

Factor X Deficiency

Skin Diseases, Genetic

Fatal Outcome

Multiple Myeloma

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization. (1/67)

Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (2/67)

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. (3/67)

Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). (4/67)

Simulations of human lysozyme: probing the conformations triggering amyloidosis. (5/67)

Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (6/67)

Safety of colchicine therapy during pregnancy. (7/67)

Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. (8/67)

Hereditary amyloidosis - Symptoms, Treatments and Resources for Hereditary amyloidosis

Familial amyloidosis - definition of familial amyloidosis by The Free Dictionary

Direct link

Familial amyloidosis, Finnish type | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

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Noninvasive Imaging of Heart Failure: A Pilot Study - Tabular View - ClinicalTrials.gov

Noninvasive Imaging of Heart Failure: A Pilot Study - Full Text View - ClinicalTrials.gov

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