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Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

dc.rights.licenseopenen_US
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorBAR, Claire
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorBAUDIER, Marie Pierre
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorLANCELOT, Gwenaëlle
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.contributor.authorGERMAIN, Dominique P
dc.contributor.authorJABBOUR, Firas
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorBLANCHET, Anne Sophie
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
dc.contributor.authorCAUCHIE, Alexandre
dc.contributor.authorSARRAZIN, Elisabeth
dc.contributor.authorBELLANCE, Rémi
dc.contributor.authorLEFAUCHEUR, Jean-Pascal
dc.contributor.authorBISMUTH, Julie
dc.contributor.authorRANQUE-GARNIER, Stéphanie
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorCORAND, Virginie
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorCOUPRY, Isabelle
hal.structure.identifierInstitut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
dc.date.accessioned2025-01-31T14:27:21Z
dc.date.available2025-01-31T14:27:21Z
dc.date.issued2024-08-04
dc.identifier.issn1532-2149en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204690
dc.description.abstractEnFabry disease (FD) is a rare X-linked lysosomal disorder caused by alpha-galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations. Since pain can be an indicator of underlying FD, we wanted to estimate the prevalence of FD in a population of chronic pain patients. Two studies, DOUFAB and DOUFABIS, were carried out in expert centers for chronic pain to assess the prevalence of FD by measuring alpha galactosidase A activity in men and analysing the GLA gene in women. Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy. The prevalence of FD is estimated about 1/1000 in our population of men and women suffering from various chronic pain. This is nearly the prevalence of FD observed in other previously screened high-risk populations with renal failure. Although a systematic search for FD does not seem relevant in the context of unexplained chronic pain in adults, a positive family history of FD or the presence of additional FD related organ features must lead to consider this rare disease diagnosis. Therefore, pain specialists need to be aware of main features of FD, including pain characteristics.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enFabry disease
dc.subject.enDOUFAB
dc.subject.enDOUFABIS studies
dc.subject.enGLA gene
dc.title.enPrevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
dc.title.alternativeEur J Painen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ejp.4708en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39099234en_US
bordeaux.journalEuropean Journal of Painen_US
bordeaux.volume29en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDSanofien_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-NDen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20Journal%20of%20Pain&rft.date=2024-08-04&rft.volume=29&rft.issue=1&rft.eissn=1532-2149&rft.issn=1532-2149&rft.au=ANGELINI,%20Chloe&BAR,%20Claire&BAUDIER,%20Marie%20Pierre&FERGELOT,%20Patricia&LANCELOT,%20Gwena%C3%ABlle&rft.genre=article


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