{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:50:52Z","timestamp":1747198252363,"version":"3.40.5"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0718_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital generalized lipodystrophy type 4 (CGL4) is a rare autosomal recessive condition with high rates of morbidity and mortality. It is a multisystem condition associated with ventricular tachyarrhythmia, congenital myopathy, hepatitis, and metabolic profile of severe hypertriglyceridemia and insulin resistance. Metreleptin is the first line treatment, however it is unavailable in several countries. Herein, we describe a unique presentation and treatment of CGL4.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0718_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 16-year-old female presented with insulin resistant diabetes, and was later found to have myopathy, hypertriglyceridemia, nonalcoholic fatty liver disease, ventricular arrhythmias, and genetic confirmation of CGL4 due to homozygous change in CAVIN1 gene. She had severe hypertriglyceridemia, frequently &gt;17\u00a0mmol\/L, requiring several hospital admissions. To better control hypertriglyceridemia, in context of known congenital myopathy, we opted for treatment with icosapent ethyl, an ethyl ester of eicosapentaenoic acid (EPA), which reduces synthesis and enhances clearance of triglycerides. On this treatment, she was able to maintain stable triglyceride levels of 4\u00a0mmol\/L.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0718_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We present the first case report of a patient with CGL4, successfully treated for hypertriglyceridemia, with icosapent ethyl.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0718","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T15:47:59Z","timestamp":1649864879000},"page":"968-972","source":"Crossref","is-referenced-by-count":2,"title":["Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4460-4514","authenticated-orcid":false,"given":"Funmbi","family":"Babalola","sequence":"first","affiliation":[{"name":"The Hospital for Sick Children Department of Paediatrics , Toronto , ON , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominic","family":"Ng","sequence":"additional","affiliation":[{"name":"Medicine , St Michael\u2019s Hospital , Toronto , ON , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anica","family":"Bulic","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Department of Paediatrics , Toronto , ON , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Curtis","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Department of Paediatrics , Toronto , ON , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Araujo-Vilar, D, Santini, F. Diagnosis and treatment of lipodystrophy: a step-by-step approach. J Endocrinol Invest 2019;42:61\u201373, https:\/\/doi.org\/10.1007\/s40618-018-0887-z.","key":"2023033122065300464_j_jpem-2021-0718_ref_001","DOI":"10.1007\/s40618-018-0887-z"},{"doi-asserted-by":"crossref","unstructured":"Patni, N, Garg, A. Congenital generalized lipodystrophies\u00a0\u2013 new insights into metabolic dysfunction. Nat Rev Endocrinol 2015;11:522\u201334, https:\/\/doi.org\/10.1038\/nrendo.2015.123.","key":"2023033122065300464_j_jpem-2021-0718_ref_002","DOI":"10.1038\/nrendo.2015.123"},{"doi-asserted-by":"crossref","unstructured":"Bhatt, D, Steg, G, Miller, M, Brinto, E, Jacobson, T, Ketchu, SB, et al.. Cardiovascular risk reduction with icosapent ethyl for hypertriglyceridemia. N Engl J Med 2019;380:11\u201322, https:\/\/doi.org\/10.1056\/nejmoa1812792.","key":"2023033122065300464_j_jpem-2021-0718_ref_003","DOI":"10.1056\/NEJMoa1812792"},{"doi-asserted-by":"crossref","unstructured":"Brown, RJ, Oral, EA, Cochran, E, Araujo-Vilar, D, Savage, DB, Long, A, et al.. Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. Endocrine 2018;60:479\u201389, https:\/\/doi.org\/10.1007\/s12020-018-1589-1.","key":"2023033122065300464_j_jpem-2021-0718_ref_004","DOI":"10.1007\/s12020-018-1589-1"},{"doi-asserted-by":"crossref","unstructured":"Valaiyapath, B, Sunil, B, Ashraf, A. Approach to Hypertriglyceridemia in the pediatric population. Pediatr Rev 2017;38:424\u201398, https:\/\/doi.org\/10.1542\/pir.2016-0138.","key":"2023033122065300464_j_jpem-2021-0718_ref_005","DOI":"10.1542\/pir.2016-0138"},{"doi-asserted-by":"crossref","unstructured":"Barker, BJ, Goodenough, R, Falko, J. Fenofibrate monotherapy induced rhabdomyolysis. Diabetes Care 2003;26:2482\u20133, https:\/\/doi.org\/10.2337\/diacare.26.8.2482.","key":"2023033122065300464_j_jpem-2021-0718_ref_006","DOI":"10.2337\/diacare.26.8.2482"},{"doi-asserted-by":"crossref","unstructured":"Bays, H, Hallen, J, Vige, R, Fraser, D, Zhou, R, Hustvedt, S, et al.. Icosabutate for treatment of very high triglycerides: a placebo-controlled, randomized, double blind, 12\u00a0week clinical trial. J Clin Lipidol 2016;10:181\u201391, https:\/\/doi.org\/10.1016\/j.jacl.2015.10.012.","key":"2023033122065300464_j_jpem-2021-0718_ref_007","DOI":"10.1016\/j.jacl.2015.10.012"},{"doi-asserted-by":"crossref","unstructured":"Backes, J, Anzalone, D, Hilleman, D, Catini, J. The clinical relevance of omega-3 fatty acids in the management of hypertriglyceridemia. Lipids Health Dis 2016;15:118\u201329, https:\/\/doi.org\/10.1186\/s12944-016-0286-4.","key":"2023033122065300464_j_jpem-2021-0718_ref_008","DOI":"10.1186\/s12944-016-0286-4"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0718\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0718\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T11:31:19Z","timestamp":1680348679000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0718\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,13]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,5,30]]},"published-print":{"date-parts":[[2022,7,26]]}},"alternative-id":["10.1515\/jpem-2021-0718"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0718","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2022,4,13]]}}}