Fabry disease
Overview
Fabry disease is a genetic disorder that affects several of the body's organ systems. Symptoms vary but usually include
- Pain due to nerve problems
- Pain in the stomach and intestines
- High blood pressure
- Chronic heart disease
- Angiokeratomas, which are blood capillaries that cause skin problems
- Unusual sweating
Fabry is a lysosomal storage disorder that usually affects males, with females as disease carriers or mildly-to-moderately affected. It is caused by mutations in the GALA gene that encodes the enzyme alpha-galactosidase.
The state of Tennessee expanded newborn screening in July 2017 to include Fabry as well as Krabbe, Hurler, Gaucher and Pompe diseases. This is important because early diagnosis allows much better disease management. Enzyme replacement therapy was approved by the FDA in 2003 and can halt progression of symptoms.