Familial amyloidosis overview: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
The diagnostic study of choice in amyloidosis is [[Tissue (biology)|tissue]] [[biopsy]] of the affected [[Organ (anatomy)|organ]]. [[Congo red|Congo Red staining]] will show apple green birefringence of the tissue sample under polarized light. | |||
===History and Symptoms=== | ===History and Symptoms=== | ||
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==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
===Surgery=== | ===Surgery=== | ||
[[Organ transplant|Organ-specific transplant]] may need to be done, depending on the organ involved. However, [[surgery]] is not commonly done in patients with amyloidosis, since it is usually a systemic disease that requires treatment of the underlying cause. | |||
===Primary Prevention=== | ===Primary Prevention=== | ||
There is no role for [[primary prevention]] in familial amyloidosis. | |||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
There is no role for secondary prevention in familial amyloidosis. | |||
==References== | ==References== | ||
Revision as of 04:47, 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.
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
The diagnostic study of choice in amyloidosis is tissue biopsy of the affected organ. Congo Red staining will show apple green birefringence of the tissue sample under polarized light.
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Organ-specific transplant may need to be done, depending on the organ involved. However, surgery is not commonly done in patients with amyloidosis, since it is usually a systemic disease that requires treatment of the underlying cause.
Primary Prevention
There is no role for primary prevention in familial amyloidosis.
Secondary Prevention
There is no role for secondary prevention in familial amyloidosis.