{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:22:25Z","timestamp":1787775745100,"version":"build-2784847793"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 1","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Familial hyperchylomicronemia syndrome, which is also known as type 1 hyperlipoproteinemia, is a very rare autosomal recessive disorder of lipoprotein metabolism which affects approximately one per million individuals. Familial hyperchylomicronemia is characterized by severe hypertriglyceridemia,with triglyceride level&gt;880 mg\/L. This is result of excessive accumulation of chylomicron and inherited defect in hydrolysis of circulating triglyceride. A 24-day-old male admitted to the neonatal intensive care unit with complaints of excessive crying with refusal to feed. During routine blood sampling, blood was found\t viscous and turned milky white after few seconds. So we diagnosed as a case of familial hyperchylomicronemia with late onset sepsis ,on the basis of high index of suspicion, high plasma triglyceride level, with second degree of early cardiac disease in family which was further genetically confirmed by whole exome sequencing, showing homozygous lipoprotein lipase gene mutation.<\/jats:p>","DOI":"10.4103\/aam.aam_624_25","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T12:01:19Z","timestamp":1772625679000},"page":"S213-S215","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Familial Hyperchylomicronemia Syndrome in a Term Neonate"],"prefix":"10.4103","volume":"25","author":[{"given":"Sudesh","family":"Kumar","sequence":"first","affiliation":[{"name":"Department of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinash","family":"Priyadarshi","sequence":"additional","affiliation":[{"name":"Department of Pathology, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumya","family":"Sanjay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MGM Medical College and LSK Hospital, Kishanganj, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"R1-20260819","first-page":"207","article-title":"Lipoprotein lipase: A multifunctional enzyme in lipoprotein metabolism","volume":"25","author":"Foubert","year":"1996","journal-title":"Presse Med"},{"key":"R2-20260819","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/0163-7258(96)00005-8","article-title":"Molecular pathobiology of the human lipoprotein lipase gene","volume":"70","author":"Murthy","year":"1996","journal-title":"Pharmacol Ther"},{"key":"R3-20260819","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/S0889-8529(05)70025-6","article-title":"The familial chylomicronemia syndrome","volume":"27","author":"Santamarina-Fojo","year":"1998","journal-title":"Endocrinol Metab Clin North Am"},{"key":"R4-20260819","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.cmet.2007.02.002","article-title":"Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons","volume":"5","author":"Beigneux","year":"2007","journal-title":"Cell Metab"},{"key":"R5-20260819","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1101\/gad.209296.112","article-title":"Biochemistry and pathophysiology of intravascular and intracellular lipolysis","volume":"27","author":"Young","year":"2013","journal-title":"Genes Dev"},{"key":"R6-20260819","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1194\/jlr.R009720","article-title":"Genetic determinants of plasma triglycerides","volume":"52","author":"Johansen","year":"2011","journal-title":"J Lipid Res"},{"key":"R7-20260819","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.jacl.2025.03.013","article-title":"Familial chylomicronemia syndrome: An expert clinical review from the National Lipid Association","volume":"19","author":"Javed","year":"2025","journal-title":"J Clin Lipidol"},{"key":"R8-20260819","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/nrendo.2015.26","article-title":"Chylomicronaemia \u2013 Current diagnosis and future therapies","volume":"11","author":"Brahm","year":"2015","journal-title":"Nat Rev Endocrinol"},{"key":"R9-20260819","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1503\/cmaj.060963","article-title":"Hypertriglyceridemia: Its etiology, effects and treatment","volume":"176","author":"Yuan","year":"2007","journal-title":"CMAJ"},{"key":"R10-20260819","doi-asserted-by":"crossref","first-page":"756","DOI":"10.4158\/EP-2018-0157","article-title":"Familial chylomicronemia syndrome: A clinical guide for endocrinologists","volume":"24","author":"Falko","year":"2018","journal-title":"Endocr Pract"},{"key":"R11-20260819","doi-asserted-by":"crossref","first-page":"455","DOI":"10.3389\/fendo.2020.00455","article-title":"Genetics of hypertriglyceridemia","volume":"11","author":"Dron","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"key":"R12-20260819","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1080\/17512433.2022.2094768","article-title":"Safety and efficacy of therapies for chylomicronemia","volume":"15","author":"Shamsudeen","year":"2022","journal-title":"Expert Rev Clin Pharmacol"},{"key":"R13-20260819","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1210\/clinem\/dgae613","article-title":"Comparison of patients with familial chylomicronemia syndrome and multifactorial chylomicronemia syndrome","volume":"110","author":"Spagnuolo","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"R14-20260819","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1210\/endrev\/bnab037","article-title":"A modern approach to dyslipidemia","volume":"43","author":"Berberich","year":"2022","journal-title":"Endocr Rev"},{"key":"R15-20260819","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.jacl.2015.12.023","article-title":"Editorial commentary: Dietary management of familial chylomicronemia syndrome","volume":"10","author":"Williams","year":"2016","journal-title":"J Clin Lipidol"},{"key":"R16-20260819","doi-asserted-by":"crossref","first-page":"621","DOI":"10.3390\/metabo13050621","article-title":"Severe hypertriglyceridaemia and chylomicronaemia syndrome-causes, clinical presentation, and therapeutic options","volume":"13","author":"Bashir","year":"2023","journal-title":"Metabolites"},{"key":"R17-20260819","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/jca.20240","article-title":"Guidelines on the use of therapeutic apheresis in clinical practice \u2013 Evidence-based approach from the Apheresis Applications Committee of the American Society for Apheresis","volume":"25","author":"Szczepiorkowski","year":"2010","journal-title":"J Clin Apher"}],"container-title":["Annals of African Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_624_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:41:15Z","timestamp":1787773275000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_624_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,4]]},"references-count":17,"journal-issue":{"issue":"Suppl 1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aam.aam_624_25","relation":{},"ISSN":["1596-3519","0975-5764"],"issn-type":[{"value":"1596-3519","type":"print"},{"value":"0975-5764","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,4]]},"assertion":[{"value":"2025-10-09","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-16","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}