Fabry's Disease

Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids.

The gene for 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 percent chance of having the condition, and her daughters have a 50 percent change 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 many patients require kidney transplantation or dialysis.

A number of patients have gastrointestinal difficulties characterized by frequent bowel movements shortly after eating. This disorder is due to 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.

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). Early experiments have indicated that enzyme replacement may be useful.

Patients with Fabry's disease usually survive into adulthood, but they are at risk for strokes, heart attacks, and kidney damage.

Information provided by the
National Institute of Neurological Disorders and Stroke,
National Institutes of Health.

Each year, Medical College of Wisconsin physicians care for more than 180,000 patients, representing nearly 500,000 patient visits. Medical College physicians practice at Children's Hospital of Wisconsin, Froedtert Memorial Lutheran Hospital, the Milwaukee VA Medical Center, and many other hospitals and clinics in Milwaukee and southeastern Wisconsin.