- Amyloidosis hereditary
- Familial amyloidosis
Your QuestionMy dad has been diagnosed with amyloidosis. How can we know if it is hereditary amyloidosis or not?
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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).
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.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
To learn more about the differences between research and clinical testing for genetic conditions, click here.