{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:41:48Z","timestamp":1790095308125,"version":"4.0.1"},"reference-count":11,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T00:00:00Z","timestamp":1755820800000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Nigel Eastmond of Eastmond Medicomm Ltd, UK"},{"name":"Amryt Pharmaceuticals"},{"DOI":"10.13039\/100007560","name":"Chiesi Farmaceutici","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007560","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We describe our 8-year clinical experience with metreleptin in a Brazilian adult female patient with congenital generalized lipodystrophy type 2 (due to a mutation in the BSCL2 gene) and severe insulin resistance. The patient was initially treated with antidiabetic medications due to the unavailability of metreleptin. Metreleptin was initiated at age 20 years. Reductions from baseline for glycated hemoglobin (HbA1c) and triglycerides on metreleptin were sustained over a 5-year treatment period. The greatest reductions in HbA1c (from 10.8% [95\u2005mmol\/mol] to 6.0% [42\u2005mmol\/mol], \u22124.8%) and triglycerides (from 398\u2005mg\/dL [4.5\u2005mmol\/mL] to 104\u2005mg\/dL [1.2\u2005mmol\/L], \u221274%) occurred after 39 months, accompanied by a \u221295% decrease in total daily insulin usage (from 1600 to 88\u2005IU\/day). No significant adverse events occurred throughout metreleptin therapy. Metreleptin therapy was interrupted for 36 months due to limited access to the medication, during which time metabolic parameters deteriorated, returning to near-baseline levels. Thereafter, metreleptin was restarted. At the most recent clinic evaluation (3 months after resuming metreleptin), HbA1c, triglycerides, and liver enzyme levels reduced relative to the last measurements taken during treatment interruption. These findings provide support for the long-term and continuous use of metreleptin in patients with generalized lipodystrophy.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf185","type":"journal-article","created":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T08:18:32Z","timestamp":1755850712000},"source":"Crossref","is-referenced-by-count":1,"title":["Long-Term Clinical Experience With Metreleptin in a Brazilian Patient With Congenital Generalized Lipodystrophy Type 2"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6618-4816","authenticated-orcid":false,"given":"Isabella","family":"Sued Le\u00e3o","sequence":"first","affiliation":[{"name":"Medical Clinic Department, Nutrology and Diabetes Unit, Universidade Federal do Rio de Janeiro , Rio de Janeiro, 21941-913 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"Rodrigues Dantas","sequence":"additional","affiliation":[{"name":"Medical Clinic Department, Nutrology and Diabetes Unit, Universidade Federal do Rio de Janeiro , Rio de Janeiro, 21941-913 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Galv\u00e3o","sequence":"additional","affiliation":[{"name":"Medical Clinic Department, Endocrinology Unit, Universidade Federal do Rio de Janeiro , Rio de Janeiro, 21941-913 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Rodacki","sequence":"additional","affiliation":[{"name":"Medical Clinic Department, Nutrology and Diabetes Unit, Universidade Federal do Rio de Janeiro , Rio de Janeiro, 21941-913 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenita","family":"Zajdenverg","sequence":"additional","affiliation":[{"name":"Medical Clinic Department, Nutrology and Diabetes Unit, Universidade Federal do Rio de Janeiro , Rio de Janeiro, 21941-913 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,8,22]]},"reference":[{"issue":"2","key":"2025082908270090100_luaf185-B1","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome: report of 2 cases","volume":"14","author":"Berardinelli","year":"1954","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2025082908270090100_luaf185-B2","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N Engl J Med"},{"issue":"6","key":"2025082908270090100_luaf185-B3","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1111\/j.1651-2227.1959.tb16421.x","article-title":"Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?","volume":"48","author":"Seip","year":"1959","journal-title":"Acta Paediatr (Stockh)"},{"issue":"12","key":"2025082908270090100_luaf185-B4","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082908270090100_luaf185-B5","author":"Ag\u00eancia Nacional de Vigil\u00e2ncia Sanit\u00e1ria"},{"issue":"3","key":"2025082908270090100_luaf185-B6","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s12020-018-1589-1","article-title":"Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy","volume":"60","author":"Brown","year":"2018","journal-title":"Endocrine"},{"issue":"1","key":"2025082908270090100_luaf185-B7","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.jhep.2013.02.007","article-title":"The liver diseases of lipodystrophy: the long-term effect of leptin treatment","volume":"59","author":"Safar Zadeh","year":"2013","journal-title":"J Hepatol"},{"issue":"1","key":"2025082908270090100_luaf185-B8","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s12020-014-0450-4","article-title":"Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience","volume":"49","author":"Araujo-Vilar","year":"2015","journal-title":"Endocrine"},{"issue":"8","key":"2025082908270090100_luaf185-B9","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJMoa012437","article-title":"Leptin-replacement therapy for lipodystrophy","volume":"346","author":"Oral","year":"2002","journal-title":"N Engl J Med"},{"issue":"5-6","key":"2025082908270090100_luaf185-B10","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1159\/000341398","article-title":"Consequences of stopping and restarting leptin in an adolescent with lipodystrophy","volume":"78","author":"Kamran","year":"2012","journal-title":"Horm Res Paediatr"},{"issue":"4","key":"2025082908270090100_luaf185-B11","doi-asserted-by":"crossref","first-page":"e1051","DOI":"10.1210\/clinem\/dgae335","article-title":"Effects of metreleptin in patients with generalized lipodystrophy before vs after the onset of severe metabolic disease","volume":"110","author":"Brush","year":"2025","journal-title":"J Clin Endocrinol Metab"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/10\/luaf185\/64106031\/luaf185.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/10\/luaf185\/64106031\/luaf185.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T12:27:08Z","timestamp":1756470428000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf185\/8239583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,19]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,8,19]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf185","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,8,19]]},"article-number":"luaf185"}}