ANGELINI, Chloe; BAR, Claire; BAUDIER, Marie Pierre; FERGELOT, Patricia; LANCELOT, Gwenaëlle; ROORYCK, Caroline; GERMAIN, Dominique P; JABBOUR, Firas; BLANCHET, Anne Sophie; CAUCHIE, Alexandre; SARRAZIN, Elisabeth; BELLANCE, Rémi; LEFAUCHEUR, Jean-Pascal; BISMUTH, Julie; RANQUE-GARNIER, Stéphanie; CORAND, Virginie; COUPRY, Isabelle; GOIZET, Cyril

doi:10.1002/ejp.4708

ANGELINI, Chloe
Institut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

BAR, Claire
Institut de Neurosciences cognitives et intégratives d'Aquitaine [INCIA]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

BAUDIER, Marie Pierre
CHU de Bordeaux Pellegrin [Bordeaux]

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Ce document a été publié dans

European Journal of Pain. 2024-08-04, vol. 29, n° 1

Résumé en anglais

Fabry 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.< Réduire

Mots clés en anglais

Fabry disease

DOUFAB

DOUFABIS studies

GLA gene

URI

https://oskar-bordeaux.fr/handle/20.500.12278/204690

DOI

http://dx.doi.org/10.1002/ejp.4708

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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

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