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Fabry Disease

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

You may notice things like:

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

Getting a Diagnosis

It can take a long time to get diagnosed with Fabry disease. That's because the symptoms are common and can affect so many different parts of the body.

Many people who have Fabry disease don't get diagnosed until years after they first had symptoms. They have often seen several different doctors for various symptoms and sometimes get the wrong diagnosis.

If your family history suggests you could be at risk for Fabry disease, you may want to ask your doctor about getting genetic testing.

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