Fabry Disease - Treatment

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What is the treatment for Fabry disease?

Fabry disease may be treated using enzyme replacement therapy with agalsidase-alpha (Replagal) or agalsidase beta (Fabrazyme) to help normalize kidney function, heart function, and blood supply to the brain.

Other treatments for Fabry disease are aimed at relieving individual symptoms.

  • phenytoin (Dilantin), carbamazepine (Tegretol), or gabapentin (Neurontin) may help prevent episodes of pain and burning sensations (acroparesthesias). Opioids may be prescribed for severe pain.
  • Antiplatelet drugs such as aspirin, ticlopidine, clopidogrel (Plavix), and aspirin-dipyridamole (Aggrenox) are prescribed to prevent recurrent ischemic strokes.
  • Warfarin (Coumadin) may be prescribed to prevent cardioembolic strokes.
  • In severe Fabry disease that has progressed to kidney failure, hemodialysis and kidney transplantation may be necessary.
  • Pancrelipase (Ultrase), metoclopramide (Reglan), H2 blockers, such as ranitidine (Zantac), cimetidine (Tagamet), famotidine (Pepcid), and others, and loperamide (Immodium) can help and soothe relieve gastrointestinal symptoms.
  • ACE inhibitors and/or blockers are prescribed for high levels of protein in the urine (proteinuria) due to kidney damage.
  • Hearing loss may be treated with hearing aids.
  • Patients with high blood pressure (hypertension) may be prescribed antihypertensive medications and they should keep blood pressure under control.
  • High cholesterol should also be treated.
  • In addition to medications, patients should eat a balanced diet, exercise, and avoid smoking.
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See what others are saying

Comment from: bobby, 65-74 Female (Patient) Published: November 20

First symptom was severe diarrheas, then sore throat and coughing. I had mild elevated temperature, sensation of hands burning and then they turned bright red. It was followed by rash on chest and extremities.

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