Fabry's Disease Information Page
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What is Fabry's Disease?
Is there any treatment?
What is the prognosis?
What is Fabry's Disease?
Fabry disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids. The gene that is altered in this disorder is on the X-chromosome, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50% chance of having the condition, and her daughters have a 50% chance of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea. In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and strokes. The kidneys become progressively involved, and A lot of patients have required kidney transplantation or dialysis. A number of patients have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. This disorder is because of a deficiency of a lipid breakdown enzyme known as ceramidetrihexosidase, also called alpha-galactosidase A. Its function is to cleave to a molecule of galactose from a lipid that arises primarily from old red blood cells.
Is there any treatment?
The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb® (a nutritional supplement). Recent experiments indicate that enzyme replacement is effective therapy for patients with this disorder.
What is the prognosis?
Patients with Fabry disease usually survive into adulthood, but they are in danger for strokes, heart attacks, and kidney damage. It is anticipated that enzyme replacement and eventually gene therapy will eliminate these difficulties.
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