Managing Your Symptoms

Treating the effects of GL-3 build-up

Most of the symptoms of Fabry disease are caused by the build-up of globotriaosylceramide (or GL-3) within various organs of the body. It is often necessary to manage these symptoms on a system-by-system basis, consulting with specialists for each affected organ. Here is a brief look at management approaches:

Kidney problems

Heart problems

Complications in the brain

Pain management

Skin problems

Gastrointestinal symptoms

Psychosocial symptoms

Kidney problems

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 severe, dialysis (a system where an external machine filters the blood) or a kidney transplant may be required.

Heart problems

GL-3 accumulation can lead to several different types of heart problems, including enlarged heart and heart valve abnormalities. Heart problems are usually managed with medication, depending on how severe they are. If medication is not sufficient, other steps may be taken.

Complications in the brain

Significant GL-3 accumulation can thicken small arteries in the brain. To help reduce the risk of stroke, physicians may prescribe medication.

Pain management

Pain is common in people with Fabry disease. Your doctor may recommend ways of reducing the frequency and severity of pain due to Fabry disease, such as:

  • Avoiding certain strenuous activities
  • Preparing in advance for changing weather conditions
  • Conserving your energy with frequent naps or breaks
  • Increasing your intake of water or other liquids
  • Your doctor may prescribe medication to help alleviate pain

Skin problems

Doctors can remove the skin rashes (angiokeratomas) commonly associated with Fabry disease.

Gastrointestinal symptoms

Gastrointestinal symptoms may include stomach pain, vomiting, nausea, and diarrhea. Your doctor may recommend a low-fat diet, or alternatively, may recommend medication.

Psychosocial symptoms

Patients with Fabry disease may demonstrate psychosocial trends common to other chronic illnesses, including clinical depression, denial of clinical symptoms, and feelings of alienation and loneliness.

  • Contact with other patients and families struggling with similar issues, and information about ongoing research can help some patients to lessen feelings of isolation, loneliness, and despair
  • Family and individual counseling can also be important resources to families or individuals affected by Fabry disease