• Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P Germain, Firas Jabbour, Anne-Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean-Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque-Garnier, Virginie Corand, Isabelle Coupry, Cyril Goizet, and DOUFABIS Consortium.
• Neurogenetics Reference Center, Medical Genetics Service, CHU Pellegrin, Bordeaux, France.
• Eur J Pain. 2024 Aug 4.

BackgroundFabry 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.MethodsTwo 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.ResultsAnalysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.ConclusionsThe 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.SignificanceAlthough 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 ®.

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