Definition

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 (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.

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, 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

Cataracts
© 2009 Nucleus Medical Art, Inc.

As adults, males may experience the following symptoms due to blood vessel blockage:

Stroke

Stroke
© 2009 Nucleus Medical Art, Inc.

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 of “Fabrazyme” (recombinant alpha-galactosidase), 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. The NIH is conducting ongoing research into the use of Fabrazyme in children.

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

To Treat Pain

  • 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

To Treat Stomach Hyperactivity

To Treat Certain Heart Disorders

  • Anticoagulants

To Treat Kidney 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.