Fabry's disease medical therapy: Difference between revisions
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***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 week | **[[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:==== | ||
Line 29: | Line 29: | ||
*Indication: Patient with amenable GLA gene variants | *Indication: Patient with amenable GLA gene variants | ||
*Drug: | *Drug: | ||
**Migalastat: 123mg PO once every other day | **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=== |
Revision as of 17:40, 23 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
- The mainstay of therapy for Fabry's disease is enzyme replacement.
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:
- Agalsidase alfa (Replagal): 0.2mg/kg IV every two week[1][2]
- Agalsidase beta (Fabrazyme): 1mgl/kg IV every two week[3][4]
Increase the enzyme activity:
- Stabilize the mutant form of the alpha-galactosidase enzyme and increase its activity.
- Indication: Patient with amenable GLA gene variants
- Drug:
Symptom and Complication Treatments
Kidney disease [8]
- ACE inhibitors and ARBs: can reduce proteinuria and stable GFR in patients with hypertension and Fabry's disease.
- Dialysis: in ESRD
Cardiovascular disease
- Anti-anginal medications[9]
- Antiarrhythmic medications[10]
- Heart failure Medications[11]
Neurological disease
- Neuropathic pain[12]
- Reduce by ERT
- Gabapentin
- Anti-convulsant drugs
- Reduce the risk of stroke[13]
- Antiplatelet (primary and secondary prevention)
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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. - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.