Fabry Disease
En Español (Spanish Version)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.
Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A (GALA, also known as ceramide trihexosidase). 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.
The primary risk factor is having family members with the disease or who are carriers of the disease.
Symptoms may begin in childhood or early adulthood. Common symptoms include:
- Pain and burning sensations in the hands and feet, often provoked by exercise, fatigue, or fever
- Spotted, dark red skin lesions (angiokeratomas) that generally are found in the area between the belly button and the knees (they may also be found elsewhere)
- Inability to sweat
-
Changes in the eyes (corneal opacities,
cataracts
)
Cataracts
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As adults, males may experience the following symptoms due to blood vessel blockage:
Stroke
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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.
While there is no cure for Fabry disease, there is a medicine approved by the Food and Drug Administration (FDA) to treat the condition. Agalsidase beta (Fabrazyme) is an enzyme replacement therapy that is given intravenously (via a needle that is placed into your arm).
Treatment may also involve other medicines and procedures to reduce symptoms.
- Carbamazepine
(Tegretol)
- According to the Food and Drug Administration (FDA), patients of Asian ancestry who have a certain gene, called HLA-B*1502, and take carbamazepine are at risk for dangerous or even fatal skin reactions. If you are of Asian descent, the FDA recommends that you get tested for this gene before taking carbamazepine. If you have been taking this medication for a few months with no skin reactions, then you are at low risk of developing these reactions. Talk to your doctor before stopping this medication.
- Phenytoin
(Dilantin)
- Neurontin
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.
Fabry Support and Information Group (FSIG)
National Institute of Neurological Disorders and Stroke
National Tay-Sachs and Allied Diseases Association
Canadian Fabry Association
Martins AM, D’Almeida V, Kyosen SO, et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.
J Pediatrics
. 2009;155(4 Suppl):S19-S31.
Nelson Textbook of Pediatrics
. 18th ed. WB Saunders; 2007.
Last Reviewed December 2011