Treatment Plans for Fabry Disease

Dr. Nicola Longo, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.

Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.