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Genetic and Rare Diseases Information Center (GARD)

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Hereditary amyloidosis

Other Names for this Disease
  • Amyloidosis hereditary
  • Familial amyloidosis
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Tests & Diagnosis

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How is hereditary amyloidosis diagnosed?

In the case of hereditary amyloidoses, the existence of a family history or similar illness is of great assistance in diagnosing the condition. However, not everyone with a mutation in a gene associated with hereditary amyloidosis will develop symptoms. Additionally, symptoms of the disease typically do not appear until older age and the condition may have been misdiagnosed in other affected family members. For these reasons, the absence of a family history may be misleading.[1]

The diagnosis of amyloidosis is usually made by performing a tissue biopsy and staining the tissue with Congo red stain to detect the presence or absence of amyloid deposits. The biopsy may be from any affected organ, but biopsying the rectal mucosa generally results in better detection of the following hereditary amyloidoses: transthyretin amyloidosis, apolipoprotein AI amyloidosis, fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).[1]

Additionally, when a hereditary amyloidoses is suspected, genetic testing may be able to confirm a diagnosis. It is important to note that genetic testing may not be available for all types of hereditary amyloidoses. For those individuals interested in pursuing genetic testing, we recommend scheduling a genetics consultation to determine whether genetic testing would be appropriate and available.
Last updated: 9/16/2011

  1. Benson MD. The hereditary amyloidoses. Best Practice & Research Clinical Rheumatology. 2003;