Definition

Fabry disease is a health problem that causes fatty materials to build up in the blood and blood vessels. The buildup slows or blocks blood flow to organs.

Causes

Fabry disease is caused by changes in a gene. The faulty gene is passed on by the mother.

Males with the faulty gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not have any symptoms, but they can pass the gene to their children. Some women may be as affected as men.

Risk Factors

The risk of this problem is higher in people who have family members who have it.

Symptoms

Symptoms may start when a person is a child or young adult. Common ones are:

• Pain and burning feeling in the hands and feet
• Spotted, dark reddish-purple skin wounds between the belly button and the knees
• Sweating more or less
• Problems seeing
• Slowed growth
• Ringing in the ears
• A feeling of spinning when a person is not moving

As adults, men may have:

• Swelling in the legs and feet
• Irregular heartbeat
• Frequent stools, diarrhea
• Problems breathing

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Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. This is often enough to make the diagnosis.

Your blood may be tested. This can confirm the disease.

Treatment

There is no cure. The goal is to manage symptoms.

You may be given medicine to:

• Replace enzymes
• Treat pain
• Thin your blood
• Manage heart problems

The kidneys may be harmed from blood flow problems. They may need:

• Angiotensin-converting enzyme (ACE) inhibitors and/or an angiotensin receptor blockers (ARBs) to stabilize kidney function
• Hemodialysis to help the kidneys filter wastes and water from the blood
• Kidney transplantation to replace a kidney that has failed

Prevention

There is no known way to prevent Fabry disease.