SYMPTOM MANAGEMENT FOR FABRY DISEASE

Enzyme replacement therapy will help to relieve or prevent most symptoms.

A. Pain is the most debilitating symptom and can be reduced with:

  1. Pain medication
  2. Increasing liquid intake
  3. Avoiding changes in temperature or humidity
  4. Avoiding physical exertion
  5. Avoiding emotional stress
  6. Avoiding fatigue

B. Skin symptoms (spotted red, blue or purplish rash in waist to knee areas)

  1. Can be removed by laser treatments
  2. Can be reduced by avoiding exposure to prolonged, direct sunlight

C. Heart problems

The following symptoms should be reported to and treated by a cardiologist:

  1. Severe chest pain
  2. Heart failure
  3. Enlarged heart
  4. High blood pressure
  5. Mitral valve insufficiency
  6. Shortness of breath
  7. Congestive heart failure
  8. Heart attack
  9. Left ventricle hypertrophy
  10. Irregular heart rhythm

D. Neurological Problems

The following problems should be reported to and treated by a neurologist:

  1. Premature stroke
  2. Dizziness or vertigo
  3. Head pain

E. Stomach and Intestine problems

  1. May improve with a low-fat diet
  2. May improve by taking pancrelipase before meals

F. Kidney problems

  1. Reduced salt and low protein diet can reduce stress on the kidneys
  2. ACE inhibitor medication from your physician for related hypertension
  3. Report swelling of the legs to your physician, who will have to confirm that the swelling is not related to low protein levels in your blood
  4. Kidney disease may progress to require chronic dialysis or kidney transplantation

G. Lung problems

  1. Stop smoking
  2. Report to your physician any shortness of breath and any history of chronic bronchitis

H. Other problems which should be reported to the physician:

  1. A history of osteoporosis
  2. Growth retardation in children
  3. Delayed puberty
  4. Episodic diarrhea

I. Eye problems (not noticeable to the affected individual)

  1. Cloudy cornea and whorl like structures in the cornea and lens may be discovered and should be monitored by an opthomologist

These suggestions only address management of the multisystem symptoms. All of these symptoms are related to the deficiency of the enzyme alpha-galactosidase. Replacing this enzyme will help to relieve or prevent most of these symptoms.


The Federal Food & Drug Administration has approved enzyme replacement therapy in the United States.

 
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