{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:56:18Z","timestamp":1788357378793,"version":"build-2803163510"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"French Ministry Health"},{"DOI":"10.13039\/501100002738","name":"Assistance-Publique H\u00f4pitaux de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Institut Hospitalo-Universitaire de Cardiom\u00e9tabolisme et Nutrition"},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"name":"French Ministry of Solidarity and Health"},{"DOI":"10.13039\/501100019125","name":"Sorbonne University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Association Fran\u00e7aise des Lipodystrophies"},{"name":"Association Robert-Debr\u00e9 pour la Recherche M\u00e9dicale"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from the patients' perspective.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Cross-sectional study conducted through a self-reported patient questionnaire.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire on disease symptoms, steps leading to the diagnosis, and healthcare professionals involved. Descriptive analyses were conducted.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Out of 175 eligible patients, 109 patients (84% women) were included; 93 had partial familial lipodystrophy and 16 congenital generalized lipodystrophy. Metabolic comorbidities (diabetes 68%, hypertriglyceridemia 66%, hepatic steatosis 57%), cardiovascular (hypertension 54%), and gynecologic complications (irregular menstruation 60%) were frequently reported. Median age at diagnosis was 30 years (interquartile range [IQR] 23-47). The overall diagnostic process was perceived as \u201cvery difficult\u201d for many patients. It extended over 12 years (IQR 5-25) with more than five different physicians consulted by 36% of respondents, before diagnosis, for lipodystrophy-related symptoms. The endocrinologist made the diagnosis for 77% of the patients. Changes in morphotype were reported as the first symptoms by the majority of respondents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad169","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T19:34:52Z","timestamp":1703014492000},"page":"23-33","source":"Crossref","is-referenced-by-count":11,"title":["Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy"],"prefix":"10.1093","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-4209","authenticated-orcid":false,"given":"H\u00e9l\u00e9na","family":"Mosbah","sequence":"first","affiliation":[{"name":"ECEVE UMR 1123, INSERM, Universit\u00e9 Paris Cit\u00e9 , 75014 Paris , France"},{"name":"Service Endocrinologie, Diab\u00e9tologie, Nutrition, CHU La Mil\u00e9trie , 86000 Poitiers , France"},{"name":"H\u00f4pital Saint-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019Insulino-S\u00e9cr\u00e9tion et de l\u2019Insulino-Sensibilit\u00e9 (PRISIS), Service d\u2019Endocrinologie, Assistance Publique-H\u00f4pitaux de Paris (AP-HP) , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8342-1596","authenticated-orcid":false,"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019Insulino-S\u00e9cr\u00e9tion et de l\u2019Insulino-Sensibilit\u00e9 (PRISIS), Service d\u2019Endocrinologie, Assistance Publique-H\u00f4pitaux de Paris (AP-HP) , 75012 Paris , France"},{"name":"Inserm U938, Centre de Recherche Saint-Antoine et Institut de Cardio-M\u00e9tabolisme et Nutrition (ICAN), Sorbonne Universit\u00e9 , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Andriss","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d\u2019Epid\u00e9miologie Clinique, APHP, H\u00f4pital Universitaire Robert Debr\u00e9 , 75019 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e8s","family":"Belalem","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019Insulino-S\u00e9cr\u00e9tion et de l\u2019Insulino-Sensibilit\u00e9 (PRISIS), Service d\u2019Endocrinologie, Assistance Publique-H\u00f4pitaux de Paris (AP-HP) , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4320-2601","authenticated-orcid":false,"given":"Brigitte","family":"Delemer","sequence":"additional","affiliation":[{"name":"Service d\u2019endocrinologie diab\u00e8te nutrition, CHU de Reims, H\u00f4pital Robert-Debr\u00e9 , 51100 Reims , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Janmaat","sequence":"additional","affiliation":[{"name":"H\u00f4pital Saint-Antoine, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019Insulino-S\u00e9cr\u00e9tion et de l\u2019Insulino-Sensibilit\u00e9 (PRISIS), Service d\u2019Endocrinologie, Assistance Publique-H\u00f4pitaux de Paris (AP-HP) , 75012 Paris , France"},{"name":"Inserm U938, Centre de Recherche Saint-Antoine et Institut de Cardio-M\u00e9tabolisme et Nutrition (ICAN), Sorbonne Universit\u00e9 , 75012 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"J\u00e9ru","sequence":"additional","affiliation":[{"name":"Inserm U938, Centre de Recherche Saint-Antoine et Institut de Cardio-M\u00e9tabolisme et Nutrition (ICAN), Sorbonne Universit\u00e9 , 75012 Paris , France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, DMU BioGeM, 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Belgique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Nob\u00e9court","sequence":"additional","affiliation":[{"name":"Service d\u2019endocrinologie Diab\u00e9tologie, Centre Hospitalier Universitaire Sud R\u00e9union , 97410 Saint Pierre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Vantyghem","sequence":"additional","affiliation":[{"name":"Endocrinologie, diab\u00e9tologie et m\u00e9tabolisme, CHU Lille , 59000 Lille , France"},{"name":"Inserm U1190 , Universit\u00e9 Lille, Institut Pasteur, 59000 Lille , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Network \u00ab Pathologies Rares de l\u2019Insulino-S\u00e9cr\u00e9tion et de l\u2019Insulino-Sensibilit\u00e9 \u00bb (PRISIS)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"B\u00e9liard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Briet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Donadille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"No\u00e9mie","family":"Dubois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Gilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Jelliman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Ma\u00eetre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Reznik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Rimareix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Verg\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"H\u00f4pital 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