Familial amyloidosis overview: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
In 1639, Nicolaus Fontanus [[Autopsy|autopsied]] a young man who had [[ascites]], [[jaundice]], [[liver abscess]], and [[splenomegaly]] and his report has been the first description of amyloidosis. There is no significant data regarding the historical perspective of amyloidosis throughout the 18th century. Rudolph Virchow and Weber are the prominent figures with substantial work on amyloidosis during the 19th century. In 1922, Bennhold introduced [[Congo red|Congo Red staining]] of [[amyloid]] that remains the [[Gold standard (test)|gold standard]] for [[diagnosis]]. | |||
==Classification== | ==Classification== | ||
Familiar amyloidosis may be classified according to the type of [[mutant]] [[protein]] into 7 subtypes: [[Transthyretin amyloidosis]] (TTR), [[Apolipoprotein AI amyloidosis|apolipoprotein AI]], [[Cystatin C amyloidosis|cystatin C]], [[Lysozyme amyloidosis|lysozyme]], [[Fibrinogen A alpha chain amyloidosis|fibrinogen A alpha-chain]], [[Gelsolin related amyloidosis|gelsolin]], and [[Apolipoprotein AII amyloidosis|apolipoprotein AII]]. | |||
==Pathophysiology== | ==Pathophysiology== | ||
==Causes== | ==Causes== | ||
Hereditary amyloidosis can be caused by [[genetic mutations]] in different genes. | |||
==Differentiating Xyz from Other Diseases== | ==Differentiating Xyz from Other Diseases== | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The [[incidence]] of amyloidosis is approximately 1.2 per 100,000 individuals per year worldwide. The [[mortality rate]] of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries. In familial amyloidosis, the mean age of presentation for TTR amyloidosis is after 50 years old and for other types is mostly third to forth decade of life. Men are more commonly affected by amyloidosis than women. | |||
==Risk Factors== | ==Risk Factors== | ||
Common risk factors in the development of familial amyloidosis include older age, male gender, african american race, and positive family history. | |||
==Screening== | ==Screening== | ||
There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for familial amyloidosis. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
Revision as of 04:38, 21 November 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Overview
Historical Perspective
In 1639, Nicolaus Fontanus autopsied a young man who had ascites, jaundice, liver abscess, and splenomegaly and his report has been the first description of amyloidosis. There is no significant data regarding the historical perspective of amyloidosis throughout the 18th century. Rudolph Virchow and Weber are the prominent figures with substantial work on amyloidosis during the 19th century. In 1922, Bennhold introduced Congo Red staining of amyloid that remains the gold standard for diagnosis.
Classification
Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes: Transthyretin amyloidosis (TTR), apolipoprotein AI, cystatin C, lysozyme, fibrinogen A alpha-chain, gelsolin, and apolipoprotein AII.
Pathophysiology
Causes
Hereditary amyloidosis can be caused by genetic mutations in different genes.
Differentiating Xyz from Other Diseases
Epidemiology and Demographics
The incidence of amyloidosis is approximately 1.2 per 100,000 individuals per year worldwide. The mortality rate of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries. In familial amyloidosis, the mean age of presentation for TTR amyloidosis is after 50 years old and for other types is mostly third to forth decade of life. Men are more commonly affected by amyloidosis than women.
Risk Factors
Common risk factors in the development of familial amyloidosis include older age, male gender, african american race, and positive family history.
Screening
There is insufficient evidence to recommend routine screening for familial amyloidosis.