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Amyloidosis

Amyloidosis
Amyloid fibril formation and classic facial features of AL amyloidosis.jpg
Classic facial features of AL amyloidosis with purpura around the eyes
Classification and external resources
Specialty endocrinology, rheumatology, cardiology
ICD-10 E85
ICD-9-CM 277.3
DiseasesDB 633
eMedicine med/3377
Patient UK Amyloidosis
MeSH D000686
[]

Amyloidosis is a rare and serious disease caused by accumulation of proteins in the form of abnormal, insoluble fibres, known as amyloid fibrils, within the extracellular space in the tissues of the body. Amyloid deposits can be confined to only one part of the body or a single organ system in 'local amyloidosis' or they can be widely distributed in organs and tissues throughout the body in 'systemic amyloidosis'. The symptoms of amyloidosis are accordingly highly variable and confirmation of the presence of amyloid in the tissues can be challenging, so that diagnosis is often delayed.

Amyloid fibrils are formed by aggregation (clumping) of normally soluble body proteins and accumulate progressively, forming amyloid deposits which disrupt the normal tissue architecture, damaging the function of tissues and organs and causing disease. In contrast to the normally efficient clearance of abnormal debris from the tissues, amyloid deposits are removed very slowly, if at all. There are many different types of amyloidosis, each caused by formation of amyloid fibrils from different soluble precursor proteins in different patients. About 30 different proteins are known to form amyloid fibrils in humans and amyloidosis is named and classified according to the identity of the respective fibril protein.

The presentation of amyloidosis is broad and depends on the site of amyloid accumulation. The kidney and heart are the most common organs involved.

Amyloid deposition in the kidneys can cause nephrotic syndrome, which results from a reduction in the kidney's ability to filter and hold on to proteins. The nephrotic syndrome occurs with or without elevations in creatinine and blood urea concentration, two biochemical markers of kidney injury. In AA amyloidosis the kidneys are involved in 91–96% of people, symptoms ranging from protein in the urine to nephrotic syndrome and rarely renal insufficiency.

Amyloid deposition in the heart can cause both diastolic and systolic heart failure. EKG changes may be present, showing low voltage and conduction abnormalities like atrioventricular block or sinus node dysfunction. On echocardiography the heart shows a restrictive filling pattern, with normal to mildly reduced systolic function. AA amyloidosis usually spares the heart.


Official
abb.
Amyloid type/Gene Description OMIM
AL amyloid light chain AL amyloidosis / multiple myeloma. Contains immunoglobulin light-chains (λ,κ) derived from plasma cells. 254500
AA SAA Serum amyloid A protein (SAA) is an acute-phase reactant that is produced in times of inflammation.
β amyloid/APP Found in Alzheimer disease brain lesions. 605714
ALect2 LECT2 In LECT2 amyloidosis, the LECT2 protein will deposit in the kidneys, resulting in symptoms typical of kidney failure. 602882
ATTR transthyretin Transthyretin is a protein that is mainly formed in the liver that transports thyroxine and retinol binding protein. A mutant form of a normal serum protein that is deposited in the genetically determined familial amyloid polyneuropathies. TTR is also deposited in the heart in Wild type transthyretin amyloidosis otherwise known as senile systemic amyloidosis. Also found in leptomeningeal amyloidosis. 105210
2M β2 microglobulin Not to be confused with Aβ, β2m is a normal serum protein, part of (MHC) Class 1 molecules. Haemodialysis-associated amyloidosis
AIAPP amylin Found in the pancreas of people with type 2 diabetes.
APrP prion protein In prion diseases, misfolded prion proteins deposit in tissues and resemble amyloid proteins. Some examples are Creutzfeldt–Jakob disease (humans), BSE or "mad cow disease" (cattle), and scrapie (sheep and goats). A recently described familial prion disease presents with peripheral amyloidosis causing autonomic neuropathy and diarrhea. 123400
AGel GSN Finnish type amyloidosis 105120
ACys CST3 Cerebral amyloid angiopathy, Icelandic-type 105150
AApoA1 APOA1 Familial visceral amyloidosis 105200
AFib FGA Familial visceral amyloidosis 105200
ALys LYZ Familial visceral amyloidosis 105200
 ? OSMR Primary cutaneous amyloidosis 105250
ABri
ADan
ITM2B Cerebral amyloid angiopathy, British-type
Danish-type
176500
117300
APro prolactin Prolactinoma
AKer keratoepithelin Familial corneal amyloidosis
AANF atrial natriuretic factor Senile amyloid of atria of heart
ACal calcitonin Medullary carcinoma of the thyroid

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