Early Diagnosis of Peripheral Nervous System Involvement in Fabry Disease and Treatment of Neuropathic Pain: The Report of an Expert Panel

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Early Diagnosis of Peripheral Nervous System Involvement in Fabry Disease and Treatment of Neuropathic Pain: The Report of an Expert Panel

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dc.contributor.author Burlina, Allesandro P
dc.contributor.author Sims, Katherine Bustin
dc.contributor.author Politei, Juan M
dc.contributor.author Bennett, Gary J
dc.contributor.author Baron, Ralf
dc.contributor.author Sommer, Claudia
dc.contributor.author Moller, Anette Torvin
dc.contributor.author Hilz, Max J
dc.date.accessioned 2011-10-20T02:24:38Z
dc.date.issued 2011
dc.identifier.citation Burlina, 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.issn 1471-2377 en_US
dc.identifier.uri http://nrs.harvard.edu/urn-3:HUL.InstRepos:5266833
dc.description.abstract Background: 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.iso en_US en_US
dc.publisher BioMed Central en_US
dc.relation.isversionof doi:10.1186/1471-2377-11-61 en_US
dc.relation.hasversion http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126707/pdf/ en_US
dash.license LAA
dc.subject diagnosis en_US
dc.subject Fabry disease en_US
dc.subject neuropathy en_US
dc.subject pain en_US
dc.subject treatment en_US
dc.title Early Diagnosis of Peripheral Nervous System Involvement in Fabry Disease and Treatment of Neuropathic Pain: The Report of an Expert Panel en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal BMC Neurology en_US
dash.depositing.author Sims, Katherine Bustin
dc.date.available 2011-10-20T02:24:38Z
dash.affiliation.other 100161 en_US

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