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{{Fabry's disease}} | {{Fabry's disease}} | ||
Revision as of 17:36, 9 May 2022
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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.
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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.