Fabry Disease

Fabry disease (also called Anderson-Fabry disease, Fabry's disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare, inherited disorder where a fat called globotriasylcermide builds up in the cells.

Symptoms of Fabry disease include burning pain in the hands and feet, times of intense pain ("Fabry crises"), gastrointestinal symptoms, fatigue, heat or cold intolerance, reduced sweating (hypohidrosis), a purple rash around the stomach (angiokeratomas), loss of hearing, or a gold-and-brown starburst pattern on the cornea of the eye.

Fabry disease is progressive, therefore early intervention is important to managing its symptoms and complications.

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