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BMC Neurology
Published in: BMC Neurology 1/2016

Open Access 01-12-2016 | Research article

Pain management strategies for neuropathic pain in Fabry disease - a systematic review

Authors: Y. Schuller, G. E. Linthorst, C. E. M. Hollak, I. N. Van Schaik, M. Biegstraaten

Published in: BMC Neurology | Issue 1/2016

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Abstract

Background

Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed. This review aims to give an overview of existing pain management strategies.

Methods

PubMed and Embase were searched up to September 2014 for relevant articles on treatment of neuropathic pain in FD.

Results

Seven-hundred-thirty-one articles were identified of which 26 were included in the analysis. Studies reported on 55 individuals in total, with group-sizes ranging from 1 to 8. Carbamazepine appeared most beneficial: complete pain relief in 5/25, partial relief in 17/25, and no benefit in 3/25 patients. Phenytoin resulted in complete relief in 1/27, partial relief in 12/27 and no benefit in 6/27 patients. In 8 patients a significant reduction in the frequency of pain attacks was described. Gabapentin caused partial relief in 6/7 and no relief in 1/7 patients. Little evidence was reported for SSNRI’s or treatment combinations. Adverse-effects were reported in all treatment strategies.

Conclusions

Only for carbamazepine, phenytoin and gabapentin there is evidence of effectiveness in neuropathic pain due to FD, but comparison of effectiveness between these drugs is lacking. In routine clinical practice adverse-effects may discourage use of carbamazepine and phenytoin in favor of second-generation antiepileptic drugs, but this is currently not supported by clinical evidence. This review suffers greatly from incomplete outcome reports and a predominance of case reports, which emphasizes the need for robust clinical trials and observational cohort studies.
Appendix
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Literature
1.
Brady RO, et al. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276(21):1163–7.CrossRefPubMed
2.
Biegstraaten M, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015;10:36.CrossRefPubMedPubMedCentral
3.
Ishii S, et al. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun. 1993;197(3):1585–9.CrossRefPubMed
4.
van der Tol L, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet. 2014;51(1):1–9.CrossRefPubMed
5.
Mehta A, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236–42.CrossRefPubMed
6.
Laney DA, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015;17(5):323–30.CrossRefPubMed
7.
Schiffmann R. Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. Acta Neurol Belg. 2006;106(2):61–5.PubMed
8.
Biegstraaten M, et al. Small fiber neuropathy in Fabry disease. Mol Genet Metab. 2012;106(2):135–41.CrossRefPubMed
9.
Choi L, et al. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neurosci Lett. 2015;594:163–8.CrossRefPubMedPubMedCentral
10.
Luciano CA, et al. Physiological characterization of neuropathy in Fabry’s disease. Muscle Nerve. 2002;26(5):622–9.CrossRefPubMed
11.
Ries M, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr. 2003;162(11):767–72.CrossRefPubMed
12.
13.
Schiffmann R, Scott LJ. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl. 2002;91(439):48–52.CrossRefPubMed
14.
Dersh J, Polatin PB, Gatchel RJ. Chronic pain and psychopathology: research findings and theoretical considerations. Psychosom Med. 2002;64(5):773–86.PubMed
15.
Gold KF, et al. Quality of life of patients with Fabry disease. Qual Life Res. 2002;11(4):317–27.CrossRefPubMed
16.
Cole AL, et al. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis. 2007;30(6):943–51.CrossRefPubMed
17.
Hoffmann B, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey. Clin J Pain. 2007;23(6):535–42.CrossRefPubMed
18.
Galanos J, et al. Clinical features of Fabry’s disease in Australian patients. Intern Med J. 2002;32(12):575–84.CrossRefPubMed
19.
Hopkin RJ, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64(5):550–5.CrossRefPubMed
20.
MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol. 2001;429(1-3):121–5.CrossRefPubMed
21.
Wise D, Wallace HJ, Jellinek EH. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med. 1962;31:177–206.PubMed
22.
Lidove O, et al. Chronic meningitis and thalamic involvement in a woman: Fabry disease expanding phenotype. J Neurol Neurosurg Psychiatry. 2007;78(9):1007.CrossRefPubMedPubMedCentral
23.
24.
Fukuhara N, et al. Fabry’s disease on the mechanism of the peripheral nerve involvement. Acta Neuropathol. 1975;33(1):9–21.CrossRefPubMed
25.
Hariharan R, Fred HL. Leg pain and kidney disease in a 38-year-old man. Hosp Pract (1995). 1996;31(7):119–20.CrossRef
26.
Knol IE, et al. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation. Am J Med Genet. 1999;82(5):436–9.CrossRefPubMed
27.
28.
29.
Bodamer OA, et al. Recurrent acroparaesthesia during febrile infections. Lancet. 2004;363(9422):1698.CrossRefPubMed
30.
Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry’s disease. Muscle Nerve. 2005;31(1):102–7.CrossRefPubMed
31.
Ramaswami U, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 2007;96(1):122–7.CrossRefPubMed
32.
33.
Parent E, et al. Fabry disease complicating pregnancy. J Matern Fetal Neonatal Med. 2010;23(10):1253–6.CrossRefPubMed
34.
Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci. 2010;31(3):299–306.CrossRefPubMedPubMedCentral
35.
Pagnini I, et al. Distal extremity pain as a presenting feature of Fabry’s disease. Arthritis Care Res (Hoboken). 2011;63(3):390–5.
36.
Biegstraaten M et al. Fabry disease: a rare cause of neuropathic pain. Curr Pain Headache Rep. 2013;17(10):365.CrossRefPubMed
37.
Sommer C, et al. Pain therapy for Fabry’s disease. Internist (Berl). 2013;54(1):121–2. 124-30.CrossRef
38.
Choudhury S, Meehan S, Shin HT. Fabry disease: an atypical presentation. Pediatr Dermatol. 2005;22(4):334–7.CrossRefPubMed
39.
Nance CS, et al. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol. 2006;63(3):453–7.CrossRefPubMed
40.
De Brabander I, et al. Phenotypical characterization of alpha-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young. Clin Neurol Neurosurg. 2013;115(7):1088–93.CrossRefPubMed
41.
Smid BE, et al. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. Clin Genet. 2015;88(2):161–6.CrossRefPubMed
42.
Terryn W, et al. Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT. JIMD Rep. 2013;8:101–8.CrossRefPubMedPubMedCentral
43.
Filling-Katz MR, et al. Carbamazepine in Fabry’s disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology. 1989;39(4):598–600.CrossRefPubMed
44.
Gordon KE, Ludman MD, Finley GA. Successful treatment of painful crises of Fabry disease with low dose morphine. Pediatr Neurol. 1995;12(3):250–1.CrossRefPubMed
45.
Inagaki M, et al. Relative hypoxia of the extremities in Fabry disease. Brain Dev. 1992;14(5):328–33.CrossRefPubMed
46.
Inagaki M, et al. Relief of chronic burning pain in Fabry disease with neurotropin. Pediatr Neurol. 1990;6(3):211–3.CrossRefPubMed
47.
Lenoir G, et al. Fabry’s disease. Carbamazepine therapy in acrodyniform syndrome. Arch Fr Pediatr. 1977;34(8):704–16.PubMed
48.
Lim SN, et al. Subtle Changes in Cutaneous Nerves and Sural Nerve Biopsy in a Patient With Fabry’s Disease. J Clin Neuromuscul Dis. 2005;7(1):19–24.CrossRefPubMed
49.
Lockman LA, et al. Relief of pain of Fabry’s disease by diphenylhydantoin. Neurology. 1973;23(8):871–5.CrossRefPubMed
50.
51.
52.
Patil RB, Joglekar VK. Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. J Assoc Physicians India. 2014;62(1):69–71.PubMed
53.
Ries M, et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis. 2003;26(4):413–4.CrossRefPubMed
54.
Shibasaki H, et al. Carbamazepine for painful crises in Fabry’s disease. J Neurol Sci. 1973;18(1):47–51.CrossRefPubMed
55.
Slee PH, van Boven LJ, Slee DS. Fabry disease: data from four families. Ned Tijdschr Geneeskd. 2000;144(50):2412–5.PubMed
56.
57.
Tome FM, Fardeau M, Lenoir G. Ultrastructure of muscle and sensory nerve in Fabry’s disease. Acta Neuropathol. 1977;38(3):187–94.CrossRefPubMed
58.
Tumer L, et al. The co-existence of Fabry and celiac diseases: a case report. Pediatr Nephrol. 2004;19(6):679–81.CrossRefPubMed
59.
Yang CC, et al. Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease. Clin Genet. 2003;63(3):205–9.CrossRefPubMed
60.
61.
Asahi K, et al. Fabry disease with few clinical signs and symptoms. Intern Med. 2002;41(11):983–5.CrossRefPubMed
62.
Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. Jama. 2000;284(21):2771–5.CrossRefPubMed
63.
Shelley ED, Shelley WB, Kurczynski TW. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol. 1995;12(3):215–9.CrossRefPubMed
64.
65.
Mills K, et al. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr. 2004;163(10):595–603.PubMed
66.
Duperrat B, et al. Proceedings: Fabry’s disease, angiokeratomas present at birth. Effect of diphenylhydantoin on painful attacks. Ann Dermatol Syphiligr (Paris). 1975;102(4):392–3.
67.
Politei JM. Intravenous lidocaine as treatment for the painful episodes in Fabry’s disease. Rev Neurol. 2009;49(3):166–7.PubMed
68.
Burlina AP, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61.CrossRefPubMedPubMedCentral
69.
Birse F, Derry S, Moore RA. Phenytoin for neuropathic pain and fibromyalgia in adults. Cochrane Database Syst Rev. 2012;5:CD009485.PubMed
70.
71.
72.
Byatt N, Deligiannidis KM, Freeman MP. Antidepressant use in pregnancy: a critical review focused on risks and controversies. Acta Psychiatr Scand. 2013;127(2):94–114.CrossRefPubMedPubMedCentral
73.
Brodie MJ, et al. Enzyme induction with antiepileptic drugs: cause for concern? Epilepsia. 2013;54(1):11–27.CrossRefPubMed
74.
Patsalos PN, et al. The importance of drug interactions in epilepsy therapy. Epilepsia. 2002;43(4):365–85.CrossRefPubMed
75.
76.
Dworkin RH, et al. Recommendations for the pharmacological management of neuropathic pain: an overview and literature update. Mayo Clin Proc. 2010;85(3 Suppl):S3–S14.CrossRefPubMedPubMedCentral
77.
Snead OC, Donner EJ. A new generation of anticonvulsants for the treatment of epilepsy in children. Paediatr Child Health. 2007;12(9):741–4.PubMedPubMedCentral
78.
Chesler EJ, et al. Genotype-dependence of gabapentin and pregabalin sensitivity: the pharmacogenetic mediation of analgesia is specific to the type of pain being inhibited. Pain. 2003;106(3):325–35.CrossRefPubMed
79.
Dworkin RH, et al. Pharmacologic management of neuropathic pain: evidence-based recommendations. Pain. 2007;132(3):237–51.CrossRefPubMed
80.
Raskin J, et al. Duloxetine versus routine care in the long-term management of diabetic peripheral neuropathic pain. J Palliat Med. 2006;9(1):29–40.CrossRefPubMed
81.
82.
83.
WHO guidelines on the pharmacological treatment of persisting pain in children with medical illnesses. 2012: France. p. 51-52.
84.
Hopkin RJ, et al. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016;117(2):104–13.CrossRefPubMed
85.
86.
Schiffmann R, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285(21):2743–9.CrossRefPubMed
87.
Eng CM, et al. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry’s disease. N Engl J Med. 2001;345(1):9–16.CrossRefPubMed
88.
Vedder AC, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One. 2007;2(7):e598.CrossRefPubMedPubMedCentral
89.
90.
91.
Ries M, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics. 2006;118(3):924–32.CrossRefPubMed
Metadata
Title
Pain management strategies for neuropathic pain in Fabry disease - a systematic review
Authors
Y. Schuller
G. E. Linthorst
C. E. M. Hollak
I. N. Van Schaik
M. Biegstraaten
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2016
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-016-0549-8

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