What are the signs and symptoms of Fabry disease?
Not everyone who has the disease will experience all the symptoms and complications. In addition, the symptoms can change as the disease progresses. Children and teenagers with Fabry disease may have one or more of the following: • Pain – Usually burning or tingling in hands and feet. Occasionally, bouts of severe pain can last for minutes to days. • Decreased ability to sweat – This can cause overheating, frequent fevers and sensitivity to hot weather. • Skin rash – A reddish-purplish rash mainly on the buttocks, groin and upper thighs, around the belly button and sometimes on elbows and knees. • Corneal pattern – A starburst pattern occurring on the cornea (front surface of the eye). The pattern can be found by a simple eye exam by an ophthalmologist (eye doctor) and normally does not affect vision As patients get older, damage to blood vessels may lead to additional problems such as: • Kidney problems-Kidney function may be reduced. If this progresses to kidney failure, dialysis or
