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__NOTOC__
__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}
{{CMG}}; {{AE}}
{{CMG}} {{AE}} {{GhazalS}}


== Overview ==
==Overview==


: The mainstay of therapy for Fabry's disease is enzyme replacement.
:The mainstay of therapy for [[Fabry's disease]] is [[Enzyme replacement therapy|enzyme replacement]] by [[Agalsidase alfa|Agalsidase]]<nowiki/>s. Other treatment is increasing the enzyme activity by [[Migalastat]]. There are also some general treatments for [[Fabry's disease]] complications.


==Medical Therapy==
==Medical Therapy==
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**There are no specific guidelines for the timing of the treatment initiation
**There are no specific guidelines for the timing of the treatment initiation
**One suggestion:
**One suggestion:
***Symptomatic and asymptomatic males (homozygotes)
***Symptomatic and asymptomatic males ([[homozygotes]])
***Symptomatic females or atypical males
***Symptomatic females or atypical males
*Drugs:
*Drugs:
**[[Agalsidase alfa]] (Replagal): 0.2mg/kg IV every two week
**[[Agalsidase alfa]] (Replagal): 0.2mg/kg IV every two week<ref name="pmid21457233">{{cite journal| author=Ramaswami U, Parini R, Pintos-Morell G, Kalkum G, Kampmann C, Beck M | display-authors=etal| title=Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. | journal=Clin Genet | year= 2012 | volume= 81 | issue= 5 | pages= 485-90 | pmid=21457233 | doi=10.1111/j.1399-0004.2011.01671.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21457233  }}</ref><ref name="pmid16950982">{{cite journal| author=Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL | display-authors=etal| title=Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. | journal=Pediatrics | year= 2006 | volume= 118 | issue= 3 | pages= 924-32 | pmid=16950982 | doi=10.1542/peds.2005-2895 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16950982  }}</ref>
**[[Agalsidase beta]] (Fabrazyme): 1mgl/kg IV every two weeks
**[[Agalsidase beta]] (Fabrazyme): 1mgl/kg IV every two week<ref name="pmid11439963">{{cite journal| author=Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S | display-authors=etal| title=Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. | journal=N Engl J Med | year= 2001 | volume= 345 | issue= 1 | pages= 9-16 | pmid=11439963 | doi=10.1056/NEJM200107053450102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11439963  }}</ref><ref name="pmid17179052">{{cite journal| author=Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M | display-authors=etal| title=Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. | journal=Ann Intern Med | year= 2007 | volume= 146 | issue= 2 | pages= 77-86 | pmid=17179052 | doi=10.7326/0003-4819-146-2-200701160-00148 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17179052  }}</ref>


====Increase the enzyme activity:====
====Increase the enzyme activity:====


*Stabilize the mutant form of the alpha-galactosidase enzyme and increase its activity.
*Stabilize the mutant form of the [[alpha-galactosidase]] enzyme and increase its activity.


*Indication: Patient with amenable GLA gene variants
*Indication: Patient with amenable [[GLA]] gene variants
*Drug:
*Drug:
**Migalastat: 123mg once every other day orally
**[[Migalastat]]: 123mg PO once every other day<ref name="pmid27509102">{{cite journal| author=Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR | display-authors=etal| title=Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. | journal=N Engl J Med | year= 2016 | volume= 375 | issue= 6 | pages= 545-55 | pmid=27509102 | doi=10.1056/NEJMoa1510198 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27509102  }}</ref><ref name="pmid28756410">{{cite journal| author=Mauer M, Sokolovskiy A, Barth JA, Castelli JP, Williams HN, Benjamin ER | display-authors=etal| title=Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. | journal=J Med Genet | year= 2017 | volume= 54 | issue= 11 | pages= 781-786 | pmid=28756410 | doi=10.1136/jmedgenet-2017-104826 | pmc=5740534 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28756410  }}</ref><ref name="pmid30723321">{{cite journal| author=Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM | display-authors=etal| title=Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study. | journal=Genet Med | year= 2019 | volume= 21 | issue= 9 | pages= 1987-1997 | pmid=30723321 | doi=10.1038/s41436-019-0451-z | pmc=6752321 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30723321  }}</ref>


===Symptom and Complication Treatments===
===Symptom and Complication Treatments===
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====Neurological disease====
====Neurological disease====


*Neuropathic pain<ref name="pmid26141332">{{cite journal| author=Watson JC, Dyck PJ| title=Peripheral Neuropathy: A Practical Approach to Diagnosis and Symptom Management. | journal=Mayo Clin Proc | year= 2015 | volume= 90 | issue= 7 | pages= 940-51 | pmid=26141332 | doi=10.1016/j.mayocp.2015.05.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26141332  }}</ref>
*[[Neuropathic]] pain<ref name="pmid26141332">{{cite journal| author=Watson JC, Dyck PJ| title=Peripheral Neuropathy: A Practical Approach to Diagnosis and Symptom Management. | journal=Mayo Clin Proc | year= 2015 | volume= 90 | issue= 7 | pages= 940-51 | pmid=26141332 | doi=10.1016/j.mayocp.2015.05.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26141332  }}</ref>
**Reduce by ERT
**Reduce by ERT
**Gabapentin
**[[Gabapentin]]
**Anti-convulsant drugs
**Anti-convulsant drugs
*Reduce the risk of stroke<ref name="pmid17362993">{{cite journal| author=Moore DF, Kaneski CR, Askari H, Schiffmann R| title=The cerebral vasculopathy of Fabry disease. | journal=J Neurol Sci | year= 2007 | volume= 257 | issue= 1-2 | pages= 258-63 | pmid=17362993 | doi=10.1016/j.jns.2007.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17362993  }}</ref>
*Reduce the risk of [[stroke]]<ref name="pmid17362993">{{cite journal| author=Moore DF, Kaneski CR, Askari H, Schiffmann R| title=The cerebral vasculopathy of Fabry disease. | journal=J Neurol Sci | year= 2007 | volume= 257 | issue= 1-2 | pages= 258-63 | pmid=17362993 | doi=10.1016/j.jns.2007.01.053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17362993  }}</ref>
**Antiplatelet (primary and secondary prevention)
**[[Antiplatelet drug|Antiplatelet]] (primary and secondary prevention)


*
*
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{{Reflist|2}}
{{Reflist|2}}


[[Category:Needs content]]
[[Category:Needs english review]]

Latest revision as of 10:35, 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

The mainstay of therapy for Fabry's disease is enzyme replacement by Agalsidases. Other treatment is increasing the enzyme activity by Migalastat. There are also some general treatments for Fabry's disease complications.

Medical Therapy

Specific Treatments

Enzyme replacement therapy (ERT):

  • Recombinant human enzymes
  • Indications:
    • There are no specific guidelines for the timing of the treatment initiation
    • One suggestion:
      • Symptomatic and asymptomatic males (homozygotes)
      • Symptomatic females or atypical males
  • Drugs:

Increase the enzyme activity:

Symptom and Complication Treatments

Kidney disease [8]

Cardiovascular disease

Neurological disease

References

  1. ↑ Ramaswami U, Parini R, Pintos-Morell G, Kalkum G, Kampmann C, Beck M; et al. (2012). "Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey". Clin Genet. 81 (5): 485–90. doi:10.1111/j.1399-0004.2011.01671.x. PMID 21457233.
  2. ↑ Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL; et al. (2006). "Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease". Pediatrics. 118 (3): 924–32. doi:10.1542/peds.2005-2895. PMID 16950982.
  3. ↑ Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S; et al. (2001). "Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease". N Engl J Med. 345 (1): 9–16. doi:10.1056/NEJM200107053450102. PMID 11439963.
  4. ↑ Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M; et al. (2007). "Agalsidase-beta therapy for advanced Fabry disease: a randomized trial". Ann Intern Med. 146 (2): 77–86. doi:10.7326/0003-4819-146-2-200701160-00148. PMID 17179052.
  5. ↑ Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR; et al. (2016). "Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat". N Engl J Med. 375 (6): 545–55. doi:10.1056/NEJMoa1510198. PMID 27509102.
  6. ↑ Mauer M, Sokolovskiy A, Barth JA, Castelli JP, Williams HN, Benjamin ER; et al. (2017). "Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment". J Med Genet. 54 (11): 781–786. doi:10.1136/jmedgenet-2017-104826. PMC 5740534. PMID 28756410.
  7. ↑ Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM; et al. (2019). "Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study". Genet Med. 21 (9): 1987–1997. doi:10.1038/s41436-019-0451-z. PMC 6752321 Check |pmc= value (help). PMID 30723321.
  8. ↑ Wanner C, Breunig F (2007). "Fabry nephropathy and the case for adjunctive renal therapy". J Am Soc Nephrol. 18 (9): 2426–8. doi:10.1681/ASN.2007070783. PMID 17699807.
  9. ↑ O'Mahony C, Elliott P (2010). "Anderson-Fabry disease and the heart". Prog Cardiovasc Dis. 52 (4): 326–35. doi:10.1016/j.pcad.2009.11.002. PMID 20109602.
  10. ↑ Weidemann F, Maier SK, Störk S, Brunner T, Liu D, Hu K; et al. (2016). "Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy". Am J Cardiol. 118 (2): 264–74. doi:10.1016/j.amjcard.2016.04.033. PMID 27265676.
  11. ↑ WRITING COMMITTEE MEMBERS. Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE; et al. (2013). "2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines". Circulation. 128 (16): e240–327. doi:10.1161/CIR.0b013e31829e8776. PMID 23741058.
  12. ↑ Watson JC, Dyck PJ (2015). "Peripheral Neuropathy: A Practical Approach to Diagnosis and Symptom Management". Mayo Clin Proc. 90 (7): 940–51. doi:10.1016/j.mayocp.2015.05.004. PMID 26141332.
  13. ↑ Moore DF, Kaneski CR, Askari H, Schiffmann R (2007). "The cerebral vasculopathy of Fabry disease". J Neurol Sci. 257 (1–2): 258–63. doi:10.1016/j.jns.2007.01.053. PMID 17362993.
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