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

Autor: Angelini C; Neurogenetics Reference Center, Medical Genetics Service, CHU Pellegrin, Bordeaux, France.; NRGen Team, UMR 5287, CNRS, INCIA, University of Bordeaux, Bordeaux, France., Bar C; NRGen Team, UMR 5287, CNRS, INCIA, University of Bordeaux, Bordeaux, France.; Department of Child and Adolescent Neuropediatrics, CHU Pellegrin, Bordeaux, France., Baudier MP; Neurogenetics Reference Center, Medical Genetics Service, CHU Pellegrin, Bordeaux, France., Fergelot P; Medical Genetics Service, CHU Pellegrin, Bordeaux, France., Lancelot G; Medical Genetics Service, CHU Pellegrin, Bordeaux, France., Rooryck C; Medical Genetics Service, CHU Pellegrin, Bordeaux, France.; Inserm, U1211, MRGM, University of Bordeaux, Bordeaux, France., Germain DP; Reference Center for Fabry Disease, AP-HP Paris Saclay University, Garches, France.; Division of Medical Genetics, University of Versailles, Montigny, France., Jabbour F; Reference Center for Fabry Disease, AP-HP Paris Saclay University, Garches, France.; Division of Medical Genetics, University of Versailles, Montigny, France., Blanchet AS; Center for the Evaluation and Treatment of Adult Pain, CHU Pellegrin, Bordeaux, France., Cauchie A; Center for the Evaluation and Treatment of Adult Pain, CHU Pellegrin, Bordeaux, France., Sarrazin E; Reference Center of Neuromuscular Rare Diseases, CHU Fort de France, Pierre Zobda Quitman Hospital, Fort de France, Martinique, France., Bellance R; Reference Center of Neuromuscular Rare Diseases, CHU Fort de France, Pierre Zobda Quitman Hospital, Fort de France, Martinique, France., Lefaucheur JP; Clinical Neurophysiology Unit, Henri Mondor University Hospital, AP-HP, Créteil, France.; ENT Team, UR4391, Paris-Est Créteil University, Créteil, France., Bismuth J; Clinical Neurophysiology Unit, Henri Mondor University Hospital, AP-HP, Créteil, France.; ENT Team, UR4391, Paris-Est Créteil University, Créteil, France., Ranque-Garnier S; Center for the Evaluation and Treatment of Pain, CHU La Timone AP-HM, Marseille, France., Corand V; Center for the Evaluation and Treatment of Adult Pain, CHU Pellegrin, Bordeaux, France., Coupry I; NRGen Team, UMR 5287, CNRS, INCIA, University of Bordeaux, Bordeaux, France.; Inserm, U1211, MRGM, University of Bordeaux, Bordeaux, France., Goizet C; Neurogenetics Reference Center, Medical Genetics Service, CHU Pellegrin, Bordeaux, France.; NRGen Team, UMR 5287, CNRS, INCIA, University of Bordeaux, Bordeaux, France.; Inserm, U1211, MRGM, University of Bordeaux, Bordeaux, France.
Jazyk: angličtina
Zdroj: European journal of pain (London, England) [Eur J Pain] 2024 Aug 04. Date of Electronic Publication: 2024 Aug 04.
DOI: 10.1002/ejp.4708
Abstrakt: Background: 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.
Methods: 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.
Results: Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.
Conclusions: 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.
Significance: 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.
(© 2024 The Author(s). European Journal of Pain published by John Wiley & Sons Ltd on behalf of European Pain Federation ‐ EFIC ®.)
Databáze: MEDLINE
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