Fabry's disease classification: Difference between revisions
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==Classification== | ==Classification== | ||
===Based upon [[Phenotypes]]=== | ===Based upon [[Phenotypes]]===<ref name="pmid12585833">{{cite journal| author=Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M | display-authors=etal| title=Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. | journal=Ann Intern Med | year= 2003 | volume= 138 | issue= 4 | pages= 338-46 | pmid=12585833 | doi=10.7326/0003-4819-138-4-200302180-00014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12585833 }} </ref> <ref name="pmid29621274">{{cite journal| author=Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U | display-authors=etal| title=Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. | journal=PLoS One | year= 2018 | volume= 13 | issue= 4 | pages= e0193550 | pmid=29621274 | doi=10.1371/journal.pone.0193550 | pmc=5886405 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29621274 }} </ref> | ||
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|2 to 30% of the normal mean | |2 to 30% of the normal mean | ||
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<nowiki>*</nowiki>[[Heterozygous]] females can categorized in both groups based on the severity of the disease, from severe classic ones to less severe atypical and even no symptoms. | <nowiki>*</nowiki>[[Heterozygous]] females can categorized in both groups based on the severity of the disease, from severe classic ones to less severe atypical and even no symptoms.<ref name="pmid18037317">{{cite journal| author=Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U | display-authors=etal| title=Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. | journal=Mol Genet Metab | year= 2008 | volume= 93 | issue= 2 | pages= 112-28 | pmid=18037317 | doi=10.1016/j.ymgme.2007.09.013 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18037317 }} </ref> | ||
===Based upon complications=== | ===Based upon complications=== | ||
Revision as of 19:59, 12 March 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
===Based upon Phenotypes===[1] [2]
| Age of onset | Severity | alpha-Gal A activity | |
|---|---|---|---|
| Classic | Childhood (mostly) | severe | no activity or<1% of the normal mean |
| Atypical (later onset) | Third to seventh decades | less severe | 2 to 30% of the normal mean |
*Heterozygous females can categorized in both groups based on the severity of the disease, from severe classic ones to less severe atypical and even no symptoms.[3]
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.
- ↑ 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.