Fabry's Disease (cont.)

What are the symptoms of Fabry disease?

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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:

Fabry disease is one of several lipid storage disorders.

Is there any treatment for Fabry disease?

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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 (Dilantin) and carbamazepine (Tegretol, Tegretol XR , Equetro, Carbatrol). Gastrointestinal hyperactivity may be treated with metoclopramide (Reglan, Octamide, Maxolon). Some individuals may require dialysis or kidney transplantation.


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Fabry Disease - Symptoms Question: What were the symptoms associated with Fabry disease in you or your child?
Fabry Disease - Treatment Question: What types of treatment have you or your child experienced for Fabry disease?

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