Estimating the Prevalence of Late-Onset Fabry Disease in the United States in 2024
This poster, prepared for the World Orphan Drug Congress Europe 2024, Barcelona (October 23–25, 2024), presents HealthLumen's work on estimating the prevalence of late-onset Fabry disease in the US in 2024 by analysing selected GLA variants mostly associated with late-onset Fabry disease, projecting their allele frequencies to the US population, and applying penetrance data to determine the number of symptomatic carriers. The carrier and symptomatic populations of Fabry disease in the US in 2024 according to the 8 variants included for analysis in this study are: 24,845 female carriers, of whom 17,392 will develop symptoms, and 12,024 male carriers, all of whom will develop symptoms.