Fast Five Quiz: Fabry Disease Presentation and Diagnosis

Helmi L. Lutsep, MD


April 06, 2021

Early and progressively severe osteoporosis can occur in patients with Fabry disease.

The first clinical manifestations, which may develop in childhood, include episodes of severe pain in the extremities (acroparesthesias), hypohidrosis, corneal and lenticular changes, and skin lesions (angiokeratoma) and gastrointestinal discomfort. When the gastrointestinal system is involved, symptoms are similar to those of inflammatory bowel disease. Raynaud phenomenon can also be an early sign of Fabry disease.

Learn more about patient history.


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