{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T01:56:23Z","timestamp":1794362183569,"version":"4.9.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Italian Ministry of University and Research","award":["2020NCKXBR"],"award-info":[{"award-number":["2020NCKXBR"]}]},{"name":"Suscettibilita alle malattie infettive nell\u2019obesita: una valutazione endocrina, traslazionale e sociologica"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Lipodystrophy syndromes comprise a group of rare diseases characterized by loss of adipose tissue without nutritional or catabolic causes. As the rarity of these conditions necessitates collaboration, the European Consortium of Lipodystrophies (ECLip) established an international, longitudinal registry for patients with all forms of lipodystrophy (excluding HIV-associated cases).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>From December 2017 to November 2023, 19 centers from 13 countries recruited 631 patients into the ECLip Registry. Cross-sectional data were analyzed using descriptive statistics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prospective data were available for 467 patients (82.7% female; 86.5% adults; median age 44.0 years). Familial partial lipodystrophy (FPLD) was the most common subtype (57.4%), especially FPLD2 (37.9%). However, in men, congenital generalized lipodystrophy was nearly as common as FPLD (33.3% vs. 35.8%). Symptoms at onset varied by subtype, with loss of adipose tissue being the most frequent. More than 70% of the patients suffered from metabolic complications, particularly dyslipidemia (59.0%) and diabetes (48.4%), but prevalence and severity varied between subtypes (prevalence of diabetes, eg, 76.9% in patients with acquired partial lipodystrophy vs. 8.7% in acquired localized lipodystrophy). Metreleptin, the only disease-specific treatment, was used by 11.6% of all patients. Thirty-four deaths were documented, primarily due to cardiovascular events and cancer. Patients with generalized forms of lipodystrophy died earlier compared to patients with partial forms (median age at death 27.0 vs. 72.0 years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study describes the largest cohort of patients with lipodystrophy reported to date. The dataset offers a comprehensive view of the epidemiology, clinical presentation, and associated comorbidities of lipodystrophy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf214","type":"journal-article","created":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:02:51Z","timestamp":1761307371000},"page":"585-603","source":"Crossref","is-referenced-by-count":9,"title":["Epidemiological and clinical data from the European Lipodystrophy Registry"],"prefix":"10.1093","volume":"193","author":[{"given":"Giovanni","family":"Ceccarini","sequence":"first","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrine Unit, University Hospital of Pisa , Via Paradisa, 2, Pisa 56124 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8342-1596","authenticated-orcid":false,"given":"Camille","family":"Vatier","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, AP-HP, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics , 184, Rue du Faubourg Saint-Antoine, Paris 75012 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baris","family":"Akinci","sequence":"additional","affiliation":[{"name":"DEPARK, Dokuz Eylul University Health Campus, Department of Endocrinology and Metabolism & Izmir Biomedicine and Genome Center (IBG) , Mithatpa\u015fa Cad. 58\/5, 35340 Balcova, Izmir ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Belalem","sequence":"additional","affiliation":[{"name":"Sorbonne University, Inserm U938, AP-HP, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics , 184, Rue du Faubourg Saint-Antoine, Paris 75012 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjoleine","family":"Broekema","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam , Meibergdreef 9, Amsterdam 1105AZ ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Csajbok","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Endocrinology-Diabetology Unit, University of Szeged , Szeged, Szolg. sor. 1 ,","place":["Hungary"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Rosaria D'Apice","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Policlinico Tor Vergata , Viale Oxford, Rome 81 00133 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Jugendgesundheit, Ulm University Hospital , Eythstr. 24, 89075 Ulm ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Nagel","sequence":"additional","affiliation":[{"name":"Institute of Epidemiology and Medical Biometry, Ulm University , Helmholtzstrasse 22, Ulm 89081 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9918-664X","authenticated-orcid":false,"given":"Julia","family":"von Schnurbein","sequence":"additional","affiliation":[{"name":"Centre for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, ENDO-ERN Center for Rare Endocrine Diseases, Ulm University Medical Centre , Eythstra\u00dfe 24, Ulm 89075 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"ECLip Registry 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