Ozlem Goker-Alpan, MD, founder of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) in Fairfax, VA provides an overview of Fabry disease.
Fabry disease an X-linked genetic disorder that leads to the buildup of globotriaosylceramide in the body’s cells.
Common features of Fabry disease include episodes of pain (acroparesthesias), angiokeratomas, hypohidrosis; corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
This video resource is part of the CME activity entitled Fabry Disease Highlights from WORLDSymposium 2020, which is supported by an educational grant from Genzyme Corporation.
To obtain credit for the CME, visit the CheckRare Learning Center.
