Robert Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children’s Hospital Medical Center, gives an overview of Fabry disease.

As Dr. Hopkin explains, Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include 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.

Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys. These forms, Dr. Hopkin stresses, are likely more prevalent than currently estimated and difficult to diagnose quickly. Additionally, Dr. Hopkin asserts that the assumption that women are not susceptible to experiencing Fabry disease symptoms is incorrect and has led to a dangerous lack of understanding of how the disease presents in women.

For more information about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/