Fabry's disease classification: Difference between revisions
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{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{AE}} | {{CMG}} {{AE}} {{GhazalS}} | ||
==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 | [[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]] | ===Based upon [[Phenotypes]]=== | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
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|41 years | |41 years | ||
|- | |- | ||
|Atypical (later onset) | |Atypical (later onset)<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> | ||
|Third to seventh decades | |Third to seventh decades | ||
|Less severe | |Less severe | ||
| Line 30: | Line 30: | ||
|>60 years<ref name="pmid17347915">{{cite journal| author=Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO | display-authors=etal| title=Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. | journal=J Inherit Metab Dis | year= 2007 | volume= 30 | issue= 2 | pages= 184-92 | pmid=17347915 | doi=10.1007/s10545-007-0521-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17347915 }}</ref> | |>60 years<ref name="pmid17347915">{{cite journal| author=Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO | display-authors=etal| title=Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. | journal=J Inherit Metab Dis | year= 2007 | volume= 30 | issue= 2 | pages= 184-92 | pmid=17347915 | doi=10.1007/s10545-007-0521-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17347915 }}</ref> | ||
|} | |} | ||
[[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.<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=== | ||
*Cardiac variant | *[[Cardiac]] variant | ||
*Renal variant | *[[Renal]] variant | ||
*Neuropathic form | *[[Neuropathic]] form | ||
**Infantile form | **Infantile form | ||
**Juvenile form | **Juvenile form | ||
| Line 42: | Line 42: | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Up to Date]] | |||
Latest revision as of 18:05, 14 July 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
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
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
- ↑ 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.