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
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...
August 4, 2024: European Journal of Pain: EJP