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__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}}
{{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 involve: [[cardiac]], [[renal]], and [[neuropathic]] forms.


==Classification==
==Classification==
*Classic form- Most commonly seen in males. It is a severe form of the disease.
*Atypical variant


*Based upon complications
===Based upon [[Phenotypes]]===
**Cardiac variant  
{| class="wikitable"
**Renal variant
|+
**Non-neuropathic form
!
**Neuropathic form
!Age of onset
***Infantile form
!Severity
***Juvenile form
![[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)<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
|Less severe
|2 to 30% of the normal mean
|>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===
 
*[[Cardiac]] variant
*[[Renal]] variant
*[[Neuropathic]] form
**Infantile form
**Juvenile form


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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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

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.