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Current Treatments

This section outlines various treatments available for Fabry disease.

Treatment with enzyme replacement therapy (ERT)

  • ERT has been approved for use in over 27 countries including the United States and those in the European Union.

Symptom Management

Treatment for kidney complications

GL-3 accumulation in the kidneys may lead to impaired function and may ultimately lead to kidney failure. Treatment depends upon the progression of the disease and the amount of kidney damage. If the problems are mild, treatment may include a low-protein diet. If problems are severe, dialysis (a system where an external machine filters the blood), or a kidney transplant may be required.

Treatment for heart problems

GL-3 accumulation can lead to several different types of heart problems, including enlarged heart and heart valve abnormalities. Fabry-related heart problems are usually managed with different medications, depending on how severe they are. If medications are not sufficient, other steps may be taken. For instance, if medications do not control chest pain (called angina), coronary angioplasty or coronary bypass surgery may be performed. Additionally, a pacemaker may be inserted to control heart beats if medications are not sufficient.

Treatment for cerebrovascular complications

Significant GL-3 accumulation can thicken small arteries in the brain. To help prevent stroke, physicians may prescribe medications that prevent the blood from clotting.

Treatment for pain

Pain is common in people with Fabry disease. To lessen the frequency and severity of Fabry pain, it may help to:

  • Avoid certain strenuous activities
  • Be prepared for changing weather conditions
  • “Budget" your energy—this could mean taking frequent naps, or at least breaks for relaxation
  • Increase the amount of water or other liquids you drink

Ask your doctor if he or she thinks that you should be taking medications for pain.

Treatment for skin rashes

Doctors can remove the skin rash (angiokeratomas) commonly associated with Fabry disease. This is done with laser treatments, which generally cause little scarring.

Treatment for gastrointestinal symptoms

Gastrointestinal symptoms, including stomach pain, nausea, and diarrhea, may improve with a low-fat diet. Alternatively, your doctor may prescribe one of two treatments: 1) an enzyme that helps with digestion, or 2) a motility agent that improves the rate at which food moves through the digestive tract.

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Treatment for kidney complications
Treatment for heart problems
Treatment for cerebrovascular
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Treatment for pain and fatigue
Treatment for skin rashes
Treatment for gastrointestinal symptoms
Ongoing studies with ERT
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Fabry Registry

First Symptoms to Diagnosis

Data from the Fabry Registry confirms the large gap between the average age of symptoms onset (10.5) and diagnosis of Fabry disease (28.5). To learn more about the importance of the Fabry Registry click here.

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