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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:

  • 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

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.

When you see your doctor, he will do a physical exam and ask you questions like these:

  • How are you feeling?
  • What's concerning you?
  • What symptoms have you noticed?
  • When did those symptoms start?
  • What medical conditions run in your family?
  • Have you seen other doctors about this problem? What did they tell you?

If your doctor thinks it might be Fabry disease, he will ask you to either take a blood test so he can measure the level of alpha-galactosidase A, or take a DNA test.

Questions for Your Doctor

When your doctor says you have Fabry disease, that may be the first time you've heard of it. You probably have a lot of questions, especially if you've been trying to figure out for a long time what's causing your symptoms.

You may want to start by asking your doctor questions like these:

  • How did you diagnose Fabry disease?
  • How has it affected my body?
  • How many people with Fabry disease have you treated?
  • Are there other doctors you would recommend that I see?
  • What treatment do you recommend?
  • How will we know if the treatment is working?
  • What are the side effects?
  • Do other people in my family need to get genetic testing to see if they have it?
  • Are my children likely to get Fabry disease?

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