TwitterRSSFacebookDirectors Blog
  Disorders A - Z:   A    B   C    D    E    F    G    H    I    J    K    L    M    N    O    P    Q    R    S    T    U    V    W    X    Y    Z

Skip secondary menu

NINDS Fabry Disease Information Page

Table of Contents (click to jump to sections)

Listen to this page using ReadSpeaker

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.

NIH Patient Recruitment for Fabry Disease Clinical Trials


Column1 Column2
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO   64020-0510
Tel: 660-463-1355
Fax: 660-463-1356

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA   02135
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Suite 404
Washington, DC   20008-2369
Tel: 800-651-9131
Fax: 800-651-9135

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 23, 2013