Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fabry's disease classification
Introduction
Overview
Overview
Fabry’s disease can be classified based on its different phenotypes or complications. Its different phenotypes are: classic and late-onset. The different complications involve: cardiac, renal, and neuropathic forms.
Classification
Classification
Based upon Phenotypes
| 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)[1] [2] | 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
- Neuropathic form
- Infantile form
- Juvenile form
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]