What is Fabry disease?

Fabry disease is a genetic (transferred from parent to child) condition that causes a buildup of fatty substances in blood vessels throughout the body. Over time, the fatty substances narrow the blood vessels by building up on the vessels’ walls. Fabry disease causes problems with blood flow and results in tissues not getting the nourishment that they need. The nervous system, skin, kidneys, heart, and brain are the tissues most often affected by Fabry disease.

What causes Fabry disease?

A defective gene on the X-chromosome causes Fabry disease. This gene results in problems with an enzyme that breaks down fatty substances.

What are the symptoms of Fabry disease?

The following are some symptoms of Fabry disease:

  • Pain, mainly in the hands and feet
  • Clusters of small, dark red spots on the skin (angiokeratomas)
  • Being less able to sweat (hypohidrosis)
  • Hearing loss and ringing in the ears (tinnitus)
  • Digestive system problems
  • Cloudiness in the front of the eye (corneal opacity)

In some cases, Fabry disease is milder and appears later in life. In these cases, the disease only affects the heart or kidneys. Fabry disease can have life-threatening complications like stroke, heart attack, and gradual kidney damage.

What is the treatment for Fabry disease?

Enzyme replacement therapy (ERT) can help ease symptoms in cases of Fabry disease. Medicines like carbamazepine can treat the pain linked to Fabry disease. Medicines like metoclopramide can help with digestive problems. Some people with Fabry disease need to have kidney transplants or dialysis. The buildup of fatty substances is not linked to diet.

What is the outlook for people with Fabry disease?

In most cases, people with Fabry disease live into adulthood. However, the risk is high for kidney damage, strokes, and heart attacks.

References

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 11/18/2016…#16235