P141: Genetic identification of Fabry disease reveals a high burden of undiagnosed phenotypes and reduces diagnostic workup
Abstract
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting from pathogenic variants in the GLA gene. While often considered a pediatric condition, adult-onset complications are more common and often “masquerade” as common diseases, such as severe cardiac and renal disease. This nonspecific presentation often leads to a significant diagnostic odyssey, many individuals remaining underdiagnosed. As effective disease-modifying treatments, including enzyme replacement and chaperone therapies, are available, early and accurate diagnosis is critical to preventing irreversible organ damage and improving patient outcomes.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Glycogen Storage Diseases and Myoclonus
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103635–103635
- Publication date
- 1 January 2026
- Language
- EN