{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:46:47Z","timestamp":1787168807646,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,8,4]],"date-time":"2024-08-04T00:00:00Z","timestamp":1722729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Pain"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Fabry disease (FD) is a rare X\u2010linked lysosomal disorder caused by alpha\u2010galactosidase deficiency consecutive to a pathogenic variant in the\n                      <jats:italic>GLA<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>GLA<\/jats:italic>\n                      gene in women.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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\u2010risk populations with renal failure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ejp.4708","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T02:34:22Z","timestamp":1722825262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies"],"prefix":"10.1002","volume":"29","author":[{"given":"Chlo\u00e9","family":"Angelini","sequence":"first","affiliation":[{"name":"Neurogenetics Reference Center, Medical Genetics Service CHU Pellegrin  Bordeaux France"},{"name":"NRGen Team, UMR 5287 CNRS, INCIA, University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Bar","sequence":"additional","affiliation":[{"name":"NRGen Team, UMR 5287 CNRS, INCIA, University of Bordeaux  Bordeaux France"},{"name":"Department of Child and Adolescent Neuropediatrics CHU Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Pierre","family":"Baudier","sequence":"additional","affiliation":[{"name":"Neurogenetics Reference Center, Medical Genetics Service CHU Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Fergelot","sequence":"additional","affiliation":[{"name":"Medical Genetics Service CHU Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwena\u00eblle","family":"Lancelot","sequence":"additional","affiliation":[{"name":"Medical Genetics Service CHU Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[{"name":"Medical Genetics Service CHU Pellegrin  Bordeaux France"},{"name":"Inserm, U1211, MRGM University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[{"name":"Reference Center for Fabry Disease AP\u2010HP Paris Saclay University  Garches France"},{"name":"Division of Medical Genetics University of Versailles  Montigny France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firas","family":"Jabbour","sequence":"additional","affiliation":[{"name":"Reference Center for Fabry Disease AP\u2010HP Paris Saclay University  Garches France"},{"name":"Division of Medical Genetics University of Versailles  Montigny France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Blanchet","sequence":"additional","affiliation":[{"name":"Center for the Evaluation and Treatment of Adult Pain CHU Pellegrin  Bordeaux 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