{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T00:31:13Z","timestamp":1725409873940},"reference-count":12,"publisher":"Universa BV","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AGEB"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>Familial chylomicronemia syndrome (FCS) (OMIM: 238600) is a rare autosomal recessive disease caused by a biallelic loss-of-function mutation in the lipoprotein lipase (LPL) complex which includes LPL and its co-factors. Patients with FCS have severe hypertiglyceridemia (&gt; 2000 mg\/dL). We describe a 15-month-old boy with repeated pancreatitis episodes caused by severe hypertriglyceridemia. Genetic analysis revealed a novel homozygous mutation in the LPL gene, i.e. c.626T&gt;G; p.(Leu209*). The mutation, carried by both parents, has been classified as a type 4 mutation which is likely pathogenic. Treatment aims at decreasing hypertriglyceridaemia by a low-fat diet (&lt; 20g\/day) eventually supplemented with medium chain triglyceride (MCT) fat to ensure caloric intake. In 2019, volanesorsen was approved by the European Medicines Agency (EMA) as adjunct treatment for adult patients with genetically proven FCS and persisting episodes of pancreatitis despite the diet.<\/jats:p>","DOI":"10.51821\/87.2.12025","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T20:26:03Z","timestamp":1725395163000},"page":"326-328","source":"Crossref","is-referenced-by-count":0,"title":["Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene"],"prefix":"10.51821","volume":"87","author":[{"given":"S","family":"Van Biervliet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Vande Velde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"De Bruyne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Callewaert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Verloo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"De Bruyne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27062","published-online":{"date-parts":[[2024,6]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Havel RJ, and Gordon RS Jr. (1960). Idiopathic hyperlipemia: metabolic studies in an affected family. J. Clin. Invest. 39, 1777-1790. doi: 10.1172\/ JCI1 04202","DOI":"10.1172\/jci104202"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Okazaki H, Gotoda T, Ogura M, Ishibashi S, Inagaki K, Daida H, Hayashi T, Hori M, Masuda D, Matsuki K, Yokoyama S, Harada-Shiba M. (2021) Current Diagnosis and Management of Primary Chylomicronemia. J Atheroscler Thromb. 1;28: 883-904. doi: 10.5551\/jat.RV17054.","DOI":"10.5551\/jat.rv17054"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"P\u00e9terfy M. (2012). Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism\/ Biochim Biophys Acta. 1821, 790-794. Doi: 10.1016\/j.bbalip.2011.10.006","DOI":"10.1016\/j.bbalip.2011.10.006"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Sundberg EL, Deng Y, and Burd CG. (2019). Syndecan-1 mediates sorting of soluble lipoprotein lipase with sphingomyelin-rich membrane in the Golgi apparatus. 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J Clin Lipidol. 15(5): 620-624. doi: 10.1016\/j.jacl.2021.10.004.","DOI":"10.1016\/j.jacl.2021.10.004"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Davidson M., Stevenson M., Hsieh A., Ahmad Z., van Lennep J.R., Crowson C., Witztum J.L. (2018) The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. J. Clin. Lipidol. 12:898\u2013907.e2. doi: 10.1016\/j.jacl.2018.04.009.","DOI":"10.1016\/j.jacl.2018.04.009"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"Shamsudeen I, Robert A Hegele RA. (2022) Safety and efficacy of therapies for chylomicronemia. Expert Rev Clin Pharmacol. 15(4):395-405. doi: 10.1080\/17512433.2022.2094768. Epub 2022 Jul 3.","DOI":"10.1080\/17512433.2022.2094768"},{"key":"ref11","doi-asserted-by":"publisher","unstructured":"Esan O., Wierzbicki A.S. (2020) Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy. Drug Des. Dev. 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