Fabry Disease

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Is there any treatment for Fabry disease?

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.

What is the prognosis for Fabry disease?

Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease, and kidney failure.

What research is being done on Fabry disease?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health, conducts and supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. This research includes clinical studies by the NINDS Developmental and Metabolic Neurology Branch:http://www.ninds.nih.gov/find_people/labs/61.htm.

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  • Fabry Disease - Symptoms

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  • Fabry Disease - Treatment

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