Overview

Causes

Fabry disease is caused by changes in a gene. .

Males with the faulty gene will have the disease. Females who have a single copy of the gene are called heterozygotes. Most heterozygotes will not have any symptoms, but they can pass the gene to their children.

Risk Factors

The risk of this problem is higher in people who have family members who have it.

SymptomsandDiagnosis

Symptoms

Symptoms may start when a person is a child or young adult. Common ones are:

  • Pain and burning feeling in the hands and feet
  • Spotted, dark reddish-purple skin bumps between the belly button and the knees
  • Sweating more or less than normal
  • Frequent loose stools (poop)
  • Slowed growth
  • Ringing in the ears
  • A feeling of spinning when a person is not moving

Adults may have:

  • Swelling in the legs and feet
  • Uneven heartbeats
  • Problems breathing
Stroke
Stroke
Copyright © 2002 Nucleus Communications, Inc. All rights reserved.

Diagnosis

The doctor will ask about symptoms and past health. A physical exam will be done.

Blood tests will be done to look for the faulty gene. This can confirm the disease. Genetic testing may also be needed.

Treatments

Treatment

There is no cure. The goal is to manage symptoms and prevent organ damage.

Medicine may be given to:

  • Replace missing enzymes
  • Treat pain
  • Manage heart problems

The kidneys may be harmed from blood flow problems. They may need:

  • Angiotensin-converting enzyme (ACE) inhibitors and/or an angiotensin receptor blockers (ARBs) to help them function
  • Hemodialysis to help them filter wastes and water from the blood
  • Kidney transplantation to replace a kidney that has failed

Prevention

There is no known way to prevent Fabry disease.

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

Edits to original content made by Denver Health.