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NINDS Fabry Disease Information Page

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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 enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A.  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.  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.  Some women who carry the genetic mutation may have symptoms of the disease.  Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, 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 symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating.  Fabry disease is one of several lipid storage disorders.

Is there any treatment?

Enzyme replacement may be effective in slowing the progression of the disease.  The pain in the hands and feet usually responds to 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 survive into adulthood but are at increase risk of strokes, heart attack and heart disease, and renal failure.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health, conducts and supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. This research includes clinical studies by the NINDS Developmental and Metabolic Neurology Branch:http://www.ninds.nih.gov/find_people/labs/61.htm.

NIH Patient Recruitment for Fabry Disease Clinical Trials

Organizations

Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO   64020-0510
info@fabry.org
http://www.fabry.org
Tel: 660-463-1355
Fax: 660-463-1356

 National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA   02135
info@ntsad.org
http://www.ntsad.org
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

  


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 February 13, 2008