Fabry's disease medical therapy: Difference between revisions
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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 | ***Symptomatic and asymptomatic males (homozygotes) | ||
***Symptomatic females or atypical males | ***Symptomatic females or atypical males | ||
*Drugs: | *Drugs: | ||
Line 19: | Line 19: | ||
**[[Agalsidase beta]] (Fabrazyme): 1mglkg every two weeks | **[[Agalsidase beta]] (Fabrazyme): 1mglkg every two weeks | ||
==== 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 once every other day orally | ||
===Symptom and Complication Treatments=== | ===Symptom and Complication Treatments=== |
Revision as of 20:09, 15 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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
- Agalsidase beta (Fabrazyme): 1mglkg every two weeks
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 once every other day orally
Symptom and Complication Treatments
Kidney disease [1]
- 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[2]
- Antiarrhythmic medications[3]
- Heart failure Medications[4]
Neurological disease
- Neuropathic pain[5]
- Reduce by ERT
- Gabapentin
- Anti-convulsant drugs
- Reduce the risk of stroke[6]
- Antiplatelet (primary and secondary prevention)
References
- ↑ 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.