‹ Return to Disorder Directory

Fabry Disease


Fabry disease (also called alpha-galactosidase-A deficiency) is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The mutated gene allows lipids to build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and may include:

  • burning sensations in the arms and legs that gets worse with exercise and hot weather,
  • small, non-cancerous, raised reddish-purple blemishes on the skin,
  • clouding in the corneas,
  • impaired blood circulation and increased risk of heart attack or stroke,
  • enlarged heart,
  • kidneys may become progressively impaired, leading to renal failure, and
  • decreased sweating, fever, and gastrointestinal difficulties.

Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys 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 symptoms similar to males with the disorder.  


Enzyme replacement therapy can reduce storage, ease pain, and preserve organ function in some individuals with Fabry disease. Drugs are often prescribed to treat pain that accompanies Fabry disease but does not treat the disorder. The U.S. Food and Drug Administration has approved migalastat (Galafold) as an oral medication for adults with Fabry disease who have a certain genetic mutation. Anti-platelet medications can help prevent strokes and medications that lower blood pressure can slow the decline of kidney function in people with Fabry disease.


Individuals with Fabry disease often die prematurely of complications from strokes, heart disease, or kidney failure.


The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease.  Researchers hope to identify biomarkers--signs that may indicate risk of a disease and improve diagnosis--for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. Researchers also are using an animal model of disease to develop new treatments. Get information from the National Library of Medicine’s MedlinePlusGenetic Brain Disorders

Fabry Support & Information Group

108 NE 2nd Street, Suite C
P.O. Box 510
Concordia, MO 64020-0510

Website: http://www.fabry.org
Phone: 660-463-1355
Fax: 660-463-1356

Non-profit support and information group that works to raise awareness of Fabry disease and its symptoms. Offers a variety of self-help, educational, and advocacy initiatives and programs in an effort to enhance identification, diagnosis, and treatment of Fabry disease.

National Fabry Disease Foundation

4301 Connecticut Avenue, NW
Suite 404
Washington, DC 20008-2369

Website: http://www.fabrydisease.org
Phone: 800-651-9131
Fax: 800-651-9135

Information sourced through CNF’s partnership with The National Institute of Neurological Disorders and Stroke (NINDS), US National Institutes of Health.