The following information may help to address your question:
What is hereditary amyloidosis?
refers to a group of inherited conditions that make up one of the subtypes of amyloidosis
. Hereditary amyloidosis is characterized by the deposit of an abnormal protein
called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function.
In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system.
While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood.
There are many types of hereditary amyloidosis associated with different gene mutations
and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis
(ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. 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
Most types of hereditary amyloidosis are inherited in an autosomal dominant
Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.
Last updated: 7/19/2016
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.
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.
Last updated: 9/16/2011
How can I find a genetics professional in my area?
Last updated: 8/23/2016
How can I learn more about the genetic tests that are currently being offered for hereditary amyloidoses?
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?
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
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
GARD Information Specialist
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