{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T01:38:55Z","timestamp":1768441135515,"version":"3.49.0"},"reference-count":21,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,3,20]]},"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>A 44-year-old woman was admitted with pancreatitis caused by hypertriglyceridaemia (fasting triglycerides 28\u2009mmol\/L). She used oral contraceptives and ezetimibe 10\u2009mg. She was overweight (body mass index 29.7\u2009kg\/m<jats:sup>2<\/jats:sup>). Diabetes mellitus was ruled out, as were nephrotic syndrome, alcohol abuse, hypothyroidism and dysbetalipoproteinaemia. Genetic analysis revealed mutations in two genes involved in triglyceride metabolism (apolipoprotein A5 and lipoprotein lipase [LPL]). The LPL activity was 45% compared with pooled healthy controls. The post-heparin triglyceride reduction was 6%, compared with a normal reduction of &gt;20%. The patient was initially treated with gemfibrozil, but this was discontinued due to side effects. Dietary triglyceride restriction and discontinuation of the oral contraceptives lowered the plasma triglycerides within 2 weeks to 3.4\u2009mmol\/L. Hypertriglyceridaemia is a risk factor for pancreatitis and cardiovascular disease, and has a broad differential diagnosis including genetic causes. Patients can achieve near-normal triglyceride values with a low-fat diet only.<\/jats:p>","DOI":"10.1136\/bcr-2018-228199","type":"journal-article","created":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T04:32:15Z","timestamp":1554352335000},"page":"e228199","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes"],"prefix":"10.1136","volume":"12","author":[{"given":"Charlotte","family":"Koopal","sequence":"first","affiliation":[{"name":"Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Remy","family":"Bemelmans","sequence":"additional","affiliation":[{"name":"Ziekenhuis Gelderse Vallei, Ede, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A David","family":"Marais","sequence":"additional","affiliation":[{"name":"Division of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank LJ","family":"Visseren","sequence":"additional","affiliation":[{"name":"Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,4,3]]},"reference":[{"key":"2025082707205528000_12.4.e228199.1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.637793"},{"key":"2025082707205528000_12.4.e228199.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60545-4"},{"key":"2025082707205528000_12.4.e228199.3","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.pan.2016.02.011","article-title":"Systematic review of hypertriglyceridemia-induced acute pancreatitis: A more virulent etiology?","volume":"16","author":"Carr","year":"2016","journal-title":"Pancreatology"},{"key":"2025082707205528000_12.4.e228199.4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/0885-4505(86)90085-X","article-title":"Plasma lipoprotein and platelet function after heparin injection: studies in normal fasted and postprandial and in type V hyperlipoproteinemic subjects","volume":"35","author":"Aviram","year":"1986","journal-title":"Biochem Med Metab Biol"},{"key":"2025082707205528000_12.4.e228199.5","doi-asserted-by":"publisher","DOI":"10.1001\/archinternmed.2008.599"},{"key":"2025082707205528000_12.4.e228199.6","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2015.26"},{"key":"2025082707205528000_12.4.e228199.7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.115.306249"},{"key":"2025082707205528000_12.4.e228199.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61177-6"},{"key":"2025082707205528000_12.4.e228199.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2016.04.013"},{"key":"2025082707205528000_12.4.e228199.10","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10545-008-0863-4","article-title":"Apoprotein A-V: an important regulator of triglyceride metabolism","volume":"31","author":"Kluger","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"2025082707205528000_12.4.e228199.11","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0000000000000290"},{"key":"2025082707205528000_12.4.e228199.12","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.295"},{"key":"2025082707205528000_12.4.e228199.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2007.11.001"},{"key":"2025082707205528000_12.4.e228199.14","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0b013e3283319a1d"},{"key":"2025082707205528000_12.4.e228199.15","unstructured":"Catapano AL , Graham I , De Backer G , et al . 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