{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:02:53Z","timestamp":1790218973474,"version":"4.1.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T00:00:00Z","timestamp":1714176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T00:00:00Z","timestamp":1714176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>We aimed to evaluate the patients\u2019 age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Patients and methods<\/jats:title>\n                <jats:p>We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, <jats:italic>Banque Nationale de Donn\u00e9es Maladies Rares<\/jats:italic>).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, <jats:italic>n<\/jats:italic>\u2009=\u2009124, including <jats:italic>n<\/jats:italic>\u2009=\u200967 FPLD2\/Dunnigan Syndrome); Acquired lipodystrophy syndromes (<jats:italic>n<\/jats:italic>\u2009=\u200998, with <jats:italic>n<\/jats:italic>\u2009=\u200913 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (<jats:italic>n<\/jats:italic>\u2009=\u200927, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (<jats:italic>n<\/jats:italic>\u2009=\u200918, CGL) and other rare severe insulin-resistance syndromes (<jats:italic>n<\/jats:italic>\u2009=\u200925). The median age at referral was 47.6 years [IQR: 31\u201360], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8\u201342.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3\u201319.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4\u201327.8] with a diagnostic delay of 10.5 years [IQR: 1.8\u201327.0].<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03173-2","type":"journal-article","created":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T15:01:39Z","timestamp":1714230099000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5507-4782","authenticated-orcid":false,"given":"Bruno","family":"Donadille","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Janmaat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e9na","family":"Mosbah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e8s","family":"Belalem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Lamothe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Nedelcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Jannot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Christin-Maitre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"F\u00e8ve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Vigouroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,27]]},"reference":[{"key":"3173_CR1","doi-asserted-by":"publisher","first-page":"803189","DOI":"10.3389\/fendo.2021.803189","volume":"12","author":"J Zammouri","year":"2021","unstructured":"Zammouri J, Vatier C, Capel E, Auclair M, Storey-London C, Bismuth E, et al. 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It was declared to the <i>Commission Nationale de l\u2019Informatique et des Libert\u00e9s<\/i>\/CNIL: MR004, and to the APHP local registry (#20230314171333), in accordance to Data Protection Authority requirements. All patients were informed about the re-use of their data for research projects listed on the BNDMR website and only patients who did not object to the re-use of their data could be included ().","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All the authors have approved the submitted version.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"177"}}