Fabry's disease medical therapy

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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:

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:
    • Migalastat: 123mg PO once every other day

Symptom and Complication Treatments

Kidney disease [1]

Cardiovascular disease

Neurological disease

  • Neuropathic pain[5]
    • Reduce by ERT
    • Gabapentin
    • Anti-convulsant drugs
  • Reduce the risk of stroke[6]
    • Antiplatelet (primary and secondary prevention)

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.