Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, talks about what physicians should know about Fabry disease.
Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
As Ms. Laney explains, Fabry symptoms can be insidious which makes misdiagnosis and lengthy diagnostic journeys common. One suggestion she makes to physicians is to note whether serum creatinine levels are rising even if they remain in the normal range.
For more information about Fabry disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/