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Papers of the Week


Papers: 3 Aug 2024 - 9 Aug 2024


2024 Aug 04


Eur J Pain


39099234

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

Authors

Angelini C, Bar C, Baudier MP, Fergelot P, Lancelot G, Rooryck C, Germain DP, Jabbour F, Blanchet AS, Cauchie A, Sarrazin E, Bellance R, Lefaucheur JP, Bismuth J, Ranque-Garnier S, Corand V, Coupry I, Goizet C

Abstract

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.