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.
Organizations
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
info@fabry.org
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
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
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
Source:National Institutes of Health; National Institute of Neurological Disorders and Stroke
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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: 6/5/2009...#6056
