Genetics & Epidemiology

Incidence and Prevalence

Fabry disease is a rare disease that can affect males and females of all ages and ethnic backgrounds, Spada M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul;79(1):31-40.  with an estimated incidence of 1:40,000 males Desnick R.J., Ioannou Y.A., Eng C.M. (2014). α-Galactosidase A Deficiency: Fabry Disease. In Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G (Eds).  and 1:20,000 females Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008;17:79-83. . However, in a newborn screening study, an incidence rate of 1:3,100 newborns has been described. Tondel C, et al. Nephron. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.2015;129(1):16-21.  It is likely that this number is mostly linked to late-onset variants and possibly non-pathogenic mutations.

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Because Fabry disease is an X-linked inherited disorder, the disease may run through several generations within one family.