Familial amyloidosis
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Familial amyloidosis Microchapters |
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Diagnosis |
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Familial amyloidosis On the Web |
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American Roentgen Ray Society Images of Familial amyloidosis |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Synonyms and keywords:
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 Familial amyloidosis 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.
Natural History, Complications and Prognosis
Diagnosis
Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Interventions | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies