From the time we take our first sip of milk as infants, fats are a major part of our diets. The body uses different enzymes to break down those fats into smaller, digestible pieces. People who are born with Fabry disease have a problem with a key enzyme— ceramide trihexosidase—that breaks apart fatty substances known as lipids. Because of a faulty gene , the enzyme is either missing completely or doesn’t work as well as it should. As a result, lipids can start building up in the body over the years, eventually causing trouble with the eyes, skin, nerves, kidneys, and heart.

Fabry disease is very rare. By the latest estimates, it affects as few as one out of 117,000 people, including one out of 40,000 to 60,000 males.

The faulty gene that causes Fabry disease is carried on the X chromosome. For this reason, it affects boys more frequently and severely than girls. A girl inherits two X chromosomes, one from her father and one from her mother. If one of those chromosomes carries the faulty gene, the other chromosome will help cancel it out. But a boy a only inherits one X chromosome from his mother. If that chromosome carries the gene for Fabry disease, he’ll get the illness.

Women who have the gene for Fabry disease are called carriers. Every male child of a carrier has a 50/50 chance of developing the disease. Every female child of a carrier has a 50/50 chance of becoming a carrier herself. If desired, women who know they are carriers can have prenatal genetic testing to check the status of their unborn child.

It only takes a simple blood test to diagnose the disease. When a person tests positive, other people in the family who could possibly carry the gene should be tested too. If someone else is found to have the disease, treatment should begin as soon as possible.

Starting in childhood or adolescence, people with Fabry disease may start developing small, purplish bumps on the skin. They may suffer from agonizing, burning pains in the hands and the feet that can last for minutes or days. The cornea of the eye may become cloudy. Other signs include hearing trouble, a loss of ability to sweat, fever, and digestive troubles after meals. Because lipids tend to build up in arteries, people with Fabry disease are at high risk for heart attack or stroke by the time they reach young adulthood, if not earlier.

People who completely lack the ceramide trihexosidase enzyme suffer from the most severe symptoms. People who have a damaged form of the enzyme—which is probably the majority of people with Fabry disease—tend to have relatively mild symptoms that show up later in life.

Doctors can prescribe several different medications to ease the symptoms of Fabry disease. Medications that calm the nerves can greatly reduce episodes of pain in the hands and feet. Options include diphenylhydantoin (Dilantin) and carbamazepine (Tegretol). Treatment with ACE inhibitors can help prevent damage to the heart and kidneys. Still, many patients eventually need dialysis or kidney transplants.

For most people with Fabry disease, enzyme replacement therapy will be an important part of their treatment. Patients can receive agalsidase beta (Fabrazyme)—an artificial form of the enzyme that’s missing or damaged—through an IV injection. Unfortunately, some patients are allergic to this artificial enzyme. But as long as their body accepts it, the injections can greatly reduce the symptoms and damage caused by the disease.

-- Chris Woolston, MS, is a contributing editor to Consumer Health Interactive. A former staff writer for Hippocrates magazine, he has written for Health, Prevention, and other journals. He writes The Healthy Skeptic, a biweekly column in the Los Angeles Times. He is also the co-author of Generation Extra Large: Rescuing Our Children from the Epidemic of Obesity (Perseus paperback, 2006).

References

First published June 16, 2009
Copyright © 2009 CVS Caremark

or find more on:

Back to top of page