Fabry's disease epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]

Fabry’s disease is a rare condition with a prevalence of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities.

• In 2021, the prevalence of Fabry’s disease was estimated to be approximately 6:100,000 to 0.8:100,000 in men.
• The prevalence of classic phenotype is estimated approximately 4.5:100,000 to 2.5:100,000 in men.
• The prevalence of atypical phenotype is about 100:100,000 to 33:100,000 in men and 16:100,000 to 2.5:100,000 in females.^[1]

• Incidence of Fabry’s disease is commonly underestimated.^[1]

• Men are more commonly affected with Fabry’s disease than females. The male to female ratio is approximately 2 to 1.^[1]

• The prevalence of Fabry’s disease does not vary by race.^[1]