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dc.contributor.authorBurlina, Allesandro P
dc.contributor.authorSims, Katherine Bustin
dc.contributor.authorPolitei, Juan M
dc.contributor.authorBennett, Gary J
dc.contributor.authorBaron, Ralf
dc.contributor.authorSommer, Claudia
dc.contributor.authorMoller, Anette Torvin
dc.contributor.authorHilz, Max J
dc.date.accessioned2011-10-20T02:24:38Z
dc.date.issued2011
dc.identifier.citationBurlina, Alessandro P, Katherine B Sims, Juan M Politei, Gary J Bennett, Ralf Baron, Claudia Sommer, Anette Torvin Moller, and Max J Hilz. 2011. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurology 11:61.en_US
dc.identifier.issn1471-2377en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:5266833
dc.description.abstractBackground: Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods: An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results: We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions: Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with Fabry disease appears to be inadequate.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi:10.1186/1471-2377-11-61en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126707/pdf/en_US
dash.licenseLAA
dc.subjectdiagnosisen_US
dc.subjectFabry diseaseen_US
dc.subjectneuropathyen_US
dc.subjectpainen_US
dc.subjecttreatmenten_US
dc.titleEarly Diagnosis of Peripheral Nervous System Involvement in Fabry Disease and Treatment of Neuropathic Pain: The Report of an Expert Panelen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Neurologyen_US
dash.depositing.authorSims, Katherine Bustin
dc.date.available2011-10-20T02:24:38Z
dash.affiliation.other100161en_US
dc.identifier.doi10.1186/1471-2377-11-61*
dash.contributor.affiliatedSims, Katherine Bustin


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