Fabry Disease: Symptoms & Signs

Medically Reviewed on 4/7/2020

Fabry disease is a rare genetic (inherited) disease characterized by a deficiency of an enzyme called alpha-galactosidase A. It is one of the so-called lysosomal storage diseases. The disease causes damage to many parts of the body, including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system.

Signs and symptoms of Fabry disease can include

Cause of Fabry disease

A mutation in a gene carried on the X chromosome causes Fabry disease. People inherit the gene mutation in an X-linked recessive manner.

Other fabry disease symptoms and signs

  • Abdominal Discomfort
  • Back Pain in the Kidney Area
  • Cloudiness of the Front Part the Eye
  • Decreased Ability to Sweat
  • Episodes of Pain and Burning Sensations in the Hands and Feet (Acroparesthesias) That Can Be Triggered by Exercise, Stress, Fatigue, Fever, or Changes in Weather
  • Frequent Bowel Movements After Eating
  • Hearing Loss
  • Joint Pain
  • Mitral Valve Prolapse
  • Problems With the Gastrointestinal System
  • Ringing in the Ears (Tinnitus)
  • Small, Dark Red Spots on the Skin (Angiokeratomas) That Develop Mostly in Clusters From the Belly Button to the Knees

Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.