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Fabry Disease

Fabry Disease is caused by an enzyme deficiency that allows fatty substances to accumulate in the blood vessels, damaging the kidneys, eyes, autonomic nervous system and cardiovascular system.

Symptoms usually appear in childhood and include a spotted skin rash, pain in the hands and feet, clouding of the cornea, and a decreased ability to perspire.

The disease progresses slowly and patients often survive to adulthood, though they are subject to kidney failure and have a higher risk of heart disease and stroke.

Fabry Disease is an X-linked recessive disorder which can also cause mild to severe symptoms in female carriers. If an affected male has daughters, they will be carriers.

Enzyme replacement therapy has been shown to slow the progression of the disease.

Fabry disease is rare but occurs in all ethnic groups, affecting approximately 1 in 40,000 males. An estimated 1 in 200 people is a carrier.

More information on Fabry Disease from the Mount Sinai School of Medicine