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.

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 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 )

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

• Kidney problems, often requiring dialysis or transplant
• Risk of early stroke or heart attack
• Chest pain
• Hypertension
• Heart failure, left ventricular hypertrophy
• Mitral valve prolapse or insufficiency
• Frequent bowel movements after eating
• Diarrhea
• Joint or back pain
• Ringing in the ears ( tinnitus ) or dizziness ( vertigo )
• Chronic bronchitis or shortness of breath
• Osteoporosis
• Delayed puberty or retarded growth

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.

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.

• 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

• Lipisorb
• Metoclopramide (Reglan)
• Pancrelipase

• Anticoagulants

• Hemodialysis
• Kidney transplantation