Fabry disease is an inherited genetic disorder caused by a defective gene. The disease causes fatty deposits in several organs of the body.

Males who inherit the defective gene will express the disease. Females who have a single copy of the gene are called "carriers," and most are asymptomatic (do not have symptoms). However, some women do have symptoms, and the severity of these symptoms can vary widely. On occasion women may be as severely affected as men.

Causes

Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A, or GALA. GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. The primary risk factor for Fabry disease is having family members with the disease or who are carriers of the disease.

Symptoms

Symptoms of Fabry disease may begin in childhood or early adulthood. Common symptoms include:

• Pain and burning sensations in the hands and feet, often provoked by exercise and hot weather

• Spotted dark red skin rash that occurs from the belly button to the knees

• Inability to sweat

• Changes in the eye that do not affect vision

As adults, males may experience the following symptoms:

• Kidney problems, often requiring dialysis or transplant

• Risk of early stroke or heart attack

• Mitral valve prolapse or other heart problems

• Frequent bowel movements after eating

• Joint or back pain

• Ringing in the ears (tinnitus) or dizziness (vertigo)

Diagnosis

Your doctor will ask about your symptoms and medical history, and perform a physical exam. Diagnosis is usually made on the basis of the symptoms listed above. A test to measure the enzyme GALA, or DNA analysis can confirm Fabry disease.

Treatment

There is no cure for Fabry disease. But, in 2003 the US Food and Drug Administration approved the use a “Fabrazyme,” an enzyme replacement therapy as treatment for Fabry disease. While the long-term effects and risks of this treatment are not yet known, treatment is currently recommended for all adults with Fabry disease and for all adult women who are known carriers. Preliminary pediatric data is somewhat encouraging, but enzyme replacement in children is still an experimental procedure.

Currently, medications or procedures are used to treat symptoms of Fabry disease.

Prevention

There is no known way to prevent Fabry disease. If you have Fabry disease or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.

RESOURCES:

Fabry Support and Information Group (FSIG)
http://www.fabry.org

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

National Tay-Sachs and Allied Diseases Association
http://www.ntsad.org

References:

Fabry Support and Information Group website. Available at: http://www.fabry.org.

National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov.