Ankit Mehta, MD, Nephrologist and Program Director for the Department of Internal Medicine at Baylor University Medical Center, discusses signs and symptoms of Fabry disease.
As Dr. Mehta explains, Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide.
Dr. Mehta also notes characteristic features of Fabry disease such as acroparesthesias, proteinuria, gastrointestinal problems, angiokeratomas, hypohidrosis, corneal opacity, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
To learn more about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/ or https://www.youtube.com/channel/UCp29uhFxrPqHJ8tbDefgr-g
Dr. Ankit Mehta, from Baylor University Medical Center, discusses the signs and symptoms of Fabry disease.
