What is Fabry Disease?

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. Fabry disease is one of several lipid storage disorders and the only X-linked lipid storage disease. Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe manifestations similar to males with the disorder. Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other signs include decreased sweating, fever, and gastrointestinal difficulties.

Is there any treatment?

Enzyme replacement therapy has been approved by the U.S. Food and Drug Administration for the treatment of Fabry disease. Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. The pain that accompanies the disease may be treated with anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide. Some individuals may require dialysis or kidney transplantation.

What is the prognosis?

Patients with Fabry disease often die prematurely of complications from strokes, heart disease, or renal failure.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health, supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.


Fabry Support & Information Group

108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
Phone: 660.463.1355
Fax: 660.463.1356
Email: info@fabry.org
Website: www.fabry.org

National Tay-Sachs and Allied Diseases Association

2001 Beacon Street, Suite 204
Brighton, MA 02135
Phone: 617.277.4463
Toll-free: 800.90.NTSAD (906.8723)
Fax: 617.277.0134
Email: info@ntsad.org
Website: www.ntsad.org

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue
Danbury, CT 06813-1968
Phone: 203.744.0100
Voice Mail: 800.999.NORD (6673)
Fax: 203.798.2291
Email: orphan@rarediseases.org
Website: www.rarediseases.org

National Fabry Disease Foundation

4301 Connecticut Avenue, NW
Suite 404
Washington, DC 20008-2369
Phone: 800.651.9131
Fax: 800.651.9135
Email: info@fabrydisease.org
Website: www.fabrydisease.org

Source:National Institutes of Health; National Institute of Neurological Disorders and Stroke

This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 10/6/2011...#6056