What Is Fabry Disease?

Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.

When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.

Your doctor may call Fabry disease a “storage disorder.” It usually starts in childhood and is much more common in men than women.

There are treatments that can make a difference in how you feel, day-to-day. Getting support from your family and friends is key, too.

Causes

You get Fabry disease from your parents. It’s passed down through genes.

The problem is that your body can’t make an enzyme called alpha-galactosidase A, which you need to break down fatty substances like oils, waxes, and fatty acids. When you have Fabry disease, you either were born without that enzyme or it doesn’t work right.

Symptoms

• Pain and burning in your hands and feet that get worse with exercise, fever, and hot weather or when you are tired
• Small, dark red spots usually found between your belly button and knees
• Cloudy vision
• Hearing loss
• Ringing in the ears
• Sweating less than normal
• Stomach pain, bowel movements right after eating

Fabry disease can lead to more serious problems, especially in men. These can include:

• Higher chance of heart attack or stroke
• Serious kidney problems, including kidney failure
• High blood pressure
• Heart failure
• Enlarged heart
• Osteoporosis

Treatment

Your doctor will probably recommend enzyme replacement therapy (ERT). It replaces the enzyme that is missing or not working correctly so that your body can break down fatty substances the way it should.

ERT is the only FDA-approved treatment for Fabry disease. It will help ease the pain and other symptoms that Fabry disease causes.

You will probably visit an outpatient center every few weeks to get the enzyme injected into a vein.

Your doctor may recommend that you also take:

• Drugs to relieve pain (prescription or nonprescription)
• Medicine for stomach problems
• Blood thinners or other drugs for irregular heartbeat or other heart problems
• Blood pressure medicine, which also helps protect your kidneys

You may need dialysis or a kidney transplant if Fabry disease has caused serious kidney damage.