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(Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Glycolipid Lipidosis; Hereditary Dystopic Lipidosis)
Fabry disease is a health problem that causes fatty materials to build up in the blood and blood vessels. The buildup slows or blocks blood flow to organs.
Fabry disease is caused by changes in a gene. The faulty gene is passed on by the mother.
Males with the faulty gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not have any symptoms, but they can pass the gene to their children. Some women may be as affected as men.
Symptoms may start when a person is a child or young adult. Common ones are:
- Pain and burning feeling in the hands and feet
- Spotted, dark reddish-purple skin wounds between the belly button and the knees
- Sweating more or less
- Problems seeing
- Slowed growth
- Ringing in the ears
- A feeling of spinning when a person is not moving
As adults, men may have:
- Swelling in the legs and feet
- Irregular heartbeat
- Frequent stools, diarrhea
- Problems breathing
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The doctor will ask about your symptoms and health history. A physical exam will be done. This is often enough to make the diagnosis.
Your blood may be tested. This can confirm the disease.
There is no cure. The goal is to manage symptoms.
You may be given medicine to:
- Replace enzymes
- Treat pain
- Thin your blood
- Manage heart problems
The kidneys may be harmed from blood flow problems. They may need:
Fabry Support and Information Group
National Institute of Neurological Disorders and Stroke
Canadian Fabry Association
Fabry disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/fabry-disease. Accessed November 4, 2020.
Fabry disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/disorders/all-disorders/fabry-disease-information-page. Accessed November 4, 2020.
Nagueh SF. Anderson-Fabry disease and other lysosomal storage disorders. Circulation. 2014 Sep 23;130(13):1081-1090.
- Reviewer: EBSCO Medical Review Board Kari Kassir, MD
- Review Date: 09/2020
- Update Date: 05/07/2021