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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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?

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:

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

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You can also expect to get regular tests to keep track of how you're doing. These may include:

  • Blood, urine, and thyroid tests
  • EKG (electrocardiogram). A nurse or other medical professional will attach soft, sticky patches to different parts of your body. These patches measure electrical signals from your heart and can tell how fast your heart is beating and if it has a healthy rhythm.
  • Echocardiogram. This is an ultrasound of your heart. It can show if all the parts of your heart are healthy and if it’s pumping well.
  • Brain MRI. An MRI, or magnetic resonance imaging, makes pictures of organs and structures inside your body.
  • CT of your head. CT, or computed tomography, is a powerful X-ray that makes detailed pictures of the inside of your body.
  • Hearing and eye exams
  • Lung function test to see how much air you breathe in and out, and how much oxygen is getting to your blood

Taking Care of Yourself

Be good to yourself. Do things that you enjoy, spend time with people who are good company, and save your energy for the things that really matter to you. Part of that may involve saying "no" more often, and letting people know what would help you. That's OK to do!

Your family and friends may not know much about Fabry disease. Help them understand what's going on with you. Sometimes, when people have serious health conditions, they get depressed or anxious because the condition is a lot to deal with. Your doctor should check on how you're feeling, but you may want to bring it up and ask for a referral to a counselor. Talking to someone can help a lot.

What to Expect

Although there is no cure for Fabry disease, treatment can bring your symptoms under control.

Even though you may not feel sick or seem to be having any problems, it's important that you follow up with treatments and tests as your doctor suggests.

Getting Support

You can find others living with Fabry disease and their caregivers through the Fabry Support & Information Group.

WebMD Medical Reference Reviewed by William Blahd, MD on June 11, 2016

Sources

SOURCES:

Emory University School of Medicine: "Fabry Disease: A Guide for the Newly Diagnosed."

Genetics Home Reference, National Institutes of Health: "Fabry disease."

Medscape: "Fabry Disease."

National Institute of Neurological Disorders and Stroke: "NINDS Fabry Disease Information Page."

NYU Langone Medical Center: "Fabry Disease."

Sunder-Plassmann, G. Fabry Disease: Perspectives from 5 Years of FOS, 2006.

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