{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:21:01Z","timestamp":1779150061132,"version":"3.51.4"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,2]],"date-time":"2024-06-02T00:00:00Z","timestamp":1717286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance\u2014<jats:italic>LPL<\/jats:italic>, <jats:italic>APOC2<\/jats:italic>, <jats:italic>APOA5<\/jats:italic>, <jats:italic>LMF1<\/jats:italic>, and <jats:italic>GPIHBP1<\/jats:italic>. Pathogenic variants in <jats:italic>LPL<\/jats:italic>, which encodes the hydrolytic enzyme lipoprotein lipase, account for over 80%\u201390% of cases. FCS may present in infancy with hypertriglyceridemia\u2010induced acute pancreatitis and is challenging to manage both acutely and in the long\u2010term. Here, we report our experience managing two unrelated infants consecutively diagnosed with hypertriglyceridemia\u2010induced acute pancreatitis caused by LPL deficiency. Both had elevated TGs at presentation (205 and 30\u2009mmol\/L, respectively) and molecular genetic testing confirmed each infant carried a different homozygous pathogenic variant in the LPL gene, specifically, c.987C&gt;A (p.Tyr329Ter) and c.632C&gt;A (p.Thr211Lys). The more severely affected infant had cutaneous xanthomata, lipemia retinalis and lipemic plasma at presentation, and required management in an intensive care setting. Acute stabilisation was achieved using insulin and heparin infusions together with the iterative implementation of a fat\u2010restricted diet, low in long chain triglycerides (LCT) and supplemented with medium chain triglycerides (MCT). In both cases, provision of adequate caloric intake (~110\u2013120\u2009kcal\/kg\/day) was also found to be important for a sustained TG reduction during the acute phase of management. In summary, a high index of suspicion is required to diagnose FCS in infants with hypertriglyceridemia\u2010induced acute pancreatitis, management of which can be challenging, highlighting the need for more evidence\u2010based recommendations.<\/jats:p>","DOI":"10.1002\/jmd2.12434","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T02:53:06Z","timestamp":1717383186000},"page":"239-248","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia\u2010induced acute pancreatitis"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4191-3319","authenticated-orcid":false,"given":"Oliver","family":"Heath","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine, The Royal Children's Hospital  Melbourne Australia"},{"name":"Victorian 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