Fabry disease is a rare inherited disorder caused by a gene mutation. It narrows blood vessels, which can hurt the skin, kidneys, heart, brain, and nervous system.
Diagnosing fabry disease can be challenging. That is because the symptoms are common and can affect so many different parts of the body.
The symptoms include:
- Chronic pain in the hands and feet;
- Opaque corneas;
- Hearing loss;
- Gastrointestinal problems;
and many more.
Fabry disease is confirmed with a test measuring levels of alpha-galactosidase.
Treatment of the disease mostly focuses on reducing the symptoms and improving the quality of life of the patient. For instance, it can be achieved via using pain relievers and anticlotting medications.
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