Fabry Disease

What is Fabry Disease?

Fabry disease is a rare disorder that happens when the body lacks an important enzyme called alpha-galactosidase A (alpha GAL). This enzyme breaks down certain fats so they can be removed from cells and passed out of the body or be recycled for other functions. When alpha GAL is missing or present in low amounts, fat builds up in cells of the blood vessels and tissues of the kidneys, heart, skin and brain. Over time, this can lead to life-threatening problems including kidney failure, heart attacks and strokes.

What causes Fabry disease?

Fabry disease is an inherited disorder, which means it is passed from parents to children. It happens when the gene that controls the body's ability to make the enzyme, alpha GAL, is abnormal. As a result, the body makes little or no alpha GAL. Because of the way the disease is inherited, men tend to develop more severe symptoms, while women inherit a milder form of the disease.

What are the signs and symptoms of Fabry disease?

Not everyone who has the disease will experience all the symptoms and complications. In addition, the symptoms can change as the disease progresses.

Children and teenagers with Fabry disease may have one or more of the following:

  • Pain - Usually burning or tingling in hands and feet. Occasionally, bouts of severe pain can last for minutes to days.
  • Decreased ability to sweat - This can cause overheating, frequent fevers and sensitivity to hot weather.
  • Skin rash - A reddish-purplish rash mainly on the buttocks, groin and upper thighs, around the belly button and sometimes on elbows and knees.
  • Corneal pattern - A starburst pattern occurring on the cornea (front surface of the eye). The pattern can be found by a simple eye exam by an ophthalmologist (eye doctor) and normally does not affect vision

As patients get older, damage to blood vessels may lead to additional problems such as:

  • Kidney problems - Kidney function may be reduced. If this progresses to kidney failure, dialysis or kidney transplant is needed. Most (but not all) patients with kidney problems will have protein and blood in their urine.
  • Stomach problems - This may include pain after eating, diarrhea and nausea.
  • Heart problems - Damage to the heart and blood vessels may lead to an enlarged heart, poorly functioning heart valves, irregular heartbeat, heart attack and heart failure.
  • Nervous system problems - Damage to blood vessels in the brain can cause weakness, head pain, numbness, dizziness and stroke.
  • Hearing problems - This may include a gradual loss of hearing or ringing in the ears (tinnitus).
  • Emotional issues - Many patients may have feelings of fear and depression, related to their illness. Parents may feel guilty about passing the disease to their children.

How is Fabry disease diagnosed?

Diagnosis may be difficult because Fabry disease is uncommon. Its symptoms are not well-recognized and may be confused with symptoms of other diseases. If you have one or more of the symptoms listed, you should speak to your doctor. After examining you, the doctor will decide whether the following tests are needed:

  • Enzyme assay - Measures the amount of alpha GAL enzyme activity in your blood
  • Genetic testing - May be a more effective test in women who generally have a milder form of the disease

If you or a family member has been diagnosed, others in your immediate and extended family may also have Fabry disease. You may want to speak to your doctor or a genetic counselor about family screening.

How is Fabry disease treated?

Enzyme Replacement:
Until recently the only treatments available helped to relieve symptoms but did not prevent long-term complications, such as heart attacks, strokes and kidney failure. Now, a form of the missing enzyme, alpha GAL, can be made by recombinant DNA technology. The recombinant form, called agalsidase beta, is given intravenously. Studies have shown that this treatment reduces fat deposits in many types of cells. It is hoped that this treatment will help to prevent life-threatening damage to important organs and enable patients with Fabry disease to live healthier lives.

Managing Symptoms and Complications:

When patients have serious problems due to the disease, the following treatments may help:

  • Heart problems - As in people without Fabry disease, treatment depends on the specific heart problem and may include medications, surgery or pacemakers.
  • Kidney problems - If mild, kidney problems may be treated with low-salt diets. Special medications called ACE inhibitors or angiotensin receptor blockers are used if blood pressure is high, or if there is protein in the urine. If kidney failure occurs, dialysis or a kidney transplant is needed.
  • Central nervous system problems - To help prevent strokes, doctors may prescribe medications to keep blood from clotting.
  • Pain - Patients may need to limit strenuous activities, drink more water and other fluids and take frequent naps to lessen fatigue. Pain-relieving medications may also help.
  • Skin rash - Laser treatment can be used to remove the rashes.
  • Stomach problems - Some doctors may recommend a low-fat diet and taking prescription medications before meals.

Where can I get more information?

Speak to your doctor and other members of your health care team. You may also want to check the following organizations:

  • National Kidney Foundation (NKF)
    800-622-9010 or 212-889-2210
    www.kidney.org
  • Fabry Support and Information Group (FSIG)
    660-463-1355
    www.fabry.org
  • Fabry Community
    800-745-4447 or 617-768-9000
    www.fabrycommunity.com
  • National Institute of Neurological Disorders and Stroke (NINDS)
    800-352-9424 or 301-496-5751
    www.ninds.nih.gov
  • National Organization for Rare Disorders (NORD)
    800-999-6673 or 203-744-0100
    www.rarediseases.org

See also in this A-Z guide:

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©2014 National Kidney Foundation. All rights reserved. This material does not constitute medical advice. It is intended for informational purposes only. Please consult a physician for specific treatment recommendations.