The Puzzle of Fabry Disease: Recognizing the Signs of a Rare Disorder

New York, NY
December 19, 2003

If you began to experience burning or tingling in your hands and feet and a decreased ability to sweat when overly hot, would you think of the rare genetic illness known as Fabry disease? Would your doctor?

Unfortunately, because Fabry disease is so rare, it is so easily missed. According to the National Kidney Foundation, patients are often initially misdiagnosed, their symptoms confused with other illnesses. "We want doctors to recognize Fabry disease so patients can receive the new therapy that is available and may possibly prevent serious complications of the disease such as kidney disease, heart disease and nerve damage,” says David Warnock, MD, president-elect of the National Kidney Foundation.

Fabry disease is a genetic disorder in which the body becomes unable to break down a fatty substance called globotriaosylceramide, causing it to accumulate in the body. Over time, the fat buildup damages cells in blood vessels and tissues of the kidneys, heart, skin and brain. This can eventually lead to life threatening problems, including heart attacks, strokes and kidney failure.

The following symptoms are often the first warning signs of Fabry disease:

  • Burning or tingling in hands and feet
  • Decreased ability to sweat, causing overheating, frequent fever and sensitivity to hot weather
  • Reddish-purplish skin rash

Over time, the damage to blood vessels can lead to problems in the stomach, heart, kidney and nervous system. Doctors who suspect a patient has Fabry disease may order certain tests needed to diagnose the condition, which look at the patient’s genetic makeup and measure the activity of an enzyme missing in Fabry patients.

The disease occurs more commonly in men and is caused by a defective gene located on the X chromosome, meaning that it runs in families. And many families suffer alone B recent estimates suggest the disease affects only one in 40,000 males.

The rare nature of the disease also ensures that few treatments exist. In April, the U.S Food and Drug Administration approved the first ever treatment targeted for Fabry disease, made up of a version of an enzyme patients either lack or carry in very low amounts. The treatment, given by injection into a vein, reduces fat deposits in many types of cells. It is hoped that this treatment will help prevent life-threatening damage to important organs and enable patients with Fabry disease to live healthier lives.

For more information about Fabry disease, contact the National Kidney Foundation at (800) 622-9010.