Abstract
BackgroundNeuropathic 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.MethodsPubMed and Embase were searched up to September 2014 for relevant articles on treatment of neuropathic pain in FD.ResultsSeven-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.ConclusionsOnly 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.
Highlights
Neuropathic pain is one of the key features of Fabry disease (FD)
Study selection We included clinical trials, case series and case reports on the effect of pain medication in children as well as adults with FD and neuropathic pain
Three studies were performed with the specific aim to evaluate the effectiveness of a treatment for neuropathic pain in FD [43, 49, 53]
Summary
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. Neuropathic pain is one of the key features of the classical phenotype of the disease and has been shown to start on average at an age of 9 years in male patients and Schuller et al BMC Neurology (2016):. Others have hypothesized that lysoGb3 (globotriaosylsphingosine, a deacylated Gb3 molecule) may exert a direct pathological effect on the ganglia or axons of Aδ fibers [8] This hypothesis is supported in a recent study where a direct link between lysoGb3, increased intracellular Ca2+ levels in peripheral sensory neurons and pain was shown [9]. Whether this is causally related to small nerve fiber damage remains unclear [9]
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