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

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,
small, dark red spots on the skin (angiokeratomas) that develop mostly in clusters from the belly button to the knees,
a decreased ability to sweat,
cloudiness of the front part the eye,
problems with the gastrointestinal system,
ringing in the ears (tinnitus),
hearing loss,
mitral valve prolapse,
abdominal discomfort,
frequent bowel movements after eating,
joint pain, and
back pain in the kidney area.

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