Ask the Doctor
Questions about kidney disease? Risk factors? Signs and symptoms? Are you concerned about yourself, a friend or family member? Ask Dr. Spry.
Fabry disease is a rare disorder that happens when the body lacks an important enzyme called alpha-galactosidase A (alpha GAL). This enzyme breaks down certain fats so they can be removed from cells and passed out of the body or be recycled for other functions. When alpha GAL is missing or present in low amounts, fat builds up in cells of the blood vessels and tissues of the kidneys, heart, skin and brain. Over time, this can lead to life-threatening problems including kidney failure, heart attacks and strokes.
Fabry disease is an inherited disorder, which means it is passed from parents to children. It happens when the gene that controls the body's ability to make the enzyme, alpha GAL, is abnormal. As a result, the body makes little or no alpha GAL. Because of the way the disease is inherited, men tend to develop more severe symptoms, while women inherit a milder form of the disease.
Not everyone who has the disease will experience all the symptoms and complications. In addition, the symptoms can change as the disease progresses.
Children and teenagers with Fabry disease may have one or more of the following:
As patients get older, damage to blood vessels may lead to additional problems such as:
Diagnosis may be difficult because Fabry disease is uncommon. Its symptoms are not well-recognized and may be confused with symptoms of other diseases. If you have one or more of the symptoms listed, you should speak to your doctor. After examining you, the doctor will decide whether the following tests are needed:
If you or a family member has been diagnosed, others in your immediate and extended family may also have Fabry disease. You may want to speak to your doctor or a genetic counselor about family screening.
Until recently the only treatments available helped to relieve symptoms but did not prevent long-term complications, such as heart attacks, strokes and kidney failure. Now, a form of the missing enzyme, alpha GAL, can be made by recombinant DNA technology. The recombinant form, called agalsidase beta, is given intravenously. Studies have shown that this treatment reduces fat deposits in many types of cells. It is hoped that this treatment will help to prevent life-threatening damage to important organs and enable patients with Fabry disease to live healthier lives.
When patients have serious problems due to the disease, the following treatments may help:
Speak to your doctor and other members of your health care team. You may also want to check the following:
If you would like more information, please contact us.
©2013 National Kidney Foundation. All rights reserved. This material does not constitute medical advice. It is intended for informational purposes only. No one associated with the National Kidney Foundation will answer medical questions via e-mail. Please consult a physician for specific treatment recommendations.