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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My dad has been diagnosed with amyloidosis. How can we know if it is hereditary amyloidosis or not?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hereditary amyloidosis?

Hereditary amyloidosis refers to a group of inherited conditions that make up one of the three major subtypes of amyloidosis. Hereditary amyloidosis is characterized by the deposit of a specific type of protein called amyloid in multiple organs of the body where it should not be, which causes disruption organ tissue structure and function. Each type of hereditary amyloidosis is the result of a mutation in a specific protein. The most common type of hereditary amyloidosis is transthyretin amyloidosis, a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. The signs and symptoms of transthyretin amyloidosis (A TTR) may include peripheral neuropathy; cardiomyopathy; or gastrointestinal, kidney, or eye problems. Other examples of hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).[1]
Last updated: 9/16/2011

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

How can I find a genetics professional in my area?

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:

Last updated: 11/27/2014

How can I learn more about the genetic tests that are currently being offered for hereditary amyloidoses?

GeneTests.org lists the names of research and clinical laboratories offering genetic testing for some of the hereditary forms of amyloidosis. The majority of laboratories do not accept direct contact from patients and their families; therefore, you will probably have to work with a health care provider such as a geneticist or genetics counselor to learn more. Click here to view a list of hereditary amyloidoses for which genetic testing is being offered. To obtain a list of clinical laboratories offering testing, click on the "Testing" icon next to the disease. To obtain a list of research laboratories offering testing, click on the "Research" icon next to the disease.

To learn more about the differences between research and clinical testing for genetic conditions, click here.
Last updated: 6/4/2009

How can I learn more about hereditary amyloidoses?

Click here to visit the Genetic and Rare Diseases Information Center (GARD) Web page on hereditary amyloidoses which provides links to more detailed information, clinical trials and research, advocacy groups, and other information resources.
Last updated: 6/4/2009

References
  • Benson MD. The hereditary amyloidoses. Best Practice & Research Clinical Rheumatology. 2003;
Other Names for this Disease
  • Amyloidosis hereditary
  • Familial amyloidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.