Symptoms of Fabry's disease vary depending on how severe the condition is and what areas of the body are affected.
General symptoms include:
- Episodes of pain in the hands or feet
- Cluster of rashes on the skin
- Reduced ability to sweat
- Cloudiness in the front part of the eye
- Ringing in the ears
- Hearing loss
- Problems with the gastrointestinal system
The fatty deposits can also result in a heart attack or stroke if they limit or block the blood flow to certain areas of the body.
Patients who have experienced a heart attack may have the following symptoms:
- Shortness of breath
- Chest pain that spreads into the arms, back or jaw
- Heavy pounding of the heart
- Abnormal heart rhythm
- Loss of consciousness
Patients who have experienced a stroke may notice the following symptoms:
- Sudden numbness or weakness of the face, arm or leg, especially on one side of the body
- Sudden confusion
- Sudden trouble speaking
- Sudden trouble seeing in one or both eyes
- Sudden trouble walking
- Sudden dizziness, loss of balance or coordination
- Sudden, severe headache with no known cause
Causes and Risk Factors
Fabry's disease is caused by a change in the GLA gene, which helps create an enzyme (alpha-galactosidase) that breaks down globotriaosylceramide.
Men are more likely to have the condition. The condition is rare and occurs in an estimated 1 out of every 40,000 to 60,000 men.
When women are diagnosed with Fabry's disease, they often have a milder form of the condition.