What causes hereditary amyloidoses?

Updated: Nov 12, 2018
  • Author: Robert O Holmes, Jr, DO; Chief Editor: Herbert S Diamond, MD  more...
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Answer

Answer

Hereditary amyloidoses encompass a group of conditions that each are related to mutations in a specific protein. The most common form is transthyretin amyloidosis (usually neuropathic), but non-neuropathic amyloidoses are likely the result of abnormalities in lysozyme, fibrinogen, alpha-chain, or apolipoprotein A-I and A-II. [59] Consider these diseases when a renal biopsy demonstrates amyloid deposition and when they are likely diagnoses (rather than light chain amyloidosis [AL] or A amyloidosis [AA]) because the family history suggests an autosomal dominant disease. Again, the definitive diagnosis is made using immunohistologic staining of the biopsy material with antibodies specific for the candidate amyloid precursor proteins. Clinical correlation is required to diagnose amyloid types, even if a hereditary form is detected by amyloid protein typing. [60]

For details, see Familial Renal Amyloidosis.


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