Fabry's disease classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fabry's disease can be classified based on its different phenotypes. Its different phenotypes are: classic and late-onset.

Classification

Based upon Phenotypes[1] [2]

Age of onset Severity alpha-Gal A activity Average age of death
Classic Childhood (mostly) Severe No activity or<1% of the normal mean 41 years
Atypical (later onset) Third to seventh decades Less severe 2 to 30% of the normal mean >60 years[3]

*Heterozygous females can be categorized in both groups based on the severity of the disease, from severe classic ones to less severe atypical and even no symptoms.[4]

Based upon complications

  • Cardiac variant
  • Renal variant
  • Non-neuropathic form
  • Neuropathic form
    • Infantile form
    • Juvenile form

References

  1. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M; et al. (2003). "Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy". Ann Intern Med. 138 (4): 338–46. doi:10.7326/0003-4819-138-4-200302180-00014. PMID 12585833.
  2. Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U; et al. (2018). "Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation". PLoS One. 13 (4): e0193550. doi:10.1371/journal.pone.0193550. PMC 5886405. PMID 29621274.
  3. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO; et al. (2007). "Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry". J Inherit Metab Dis. 30 (2): 184–92. doi:10.1007/s10545-007-0521-2. PMID 17347915.
  4. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U; et al. (2008). "Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry". Mol Genet Metab. 93 (2): 112–28. doi:10.1016/j.ymgme.2007.09.013. PMID 18037317.