{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T05:31:17Z","timestamp":1792215077382,"version":"4.4.0"},"reference-count":48,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (&gt;10\u00a0mmol\u00a0L\n                    <jats:sup>\u22121<\/jats:sup>\n                    ). This condition is associated with a significant risk of recurrent acute pancreatitis (AP). AP caused by hypertriglyceridaemia (HTG) has been associated with a worse prognosis and higher mortality rates compared to pancreatitis of other aetiology. Despite its association with poor quality of life and increased lifelong risk of HTG\u2010AP, few healthcare providers are familiar with FCS. Because this condition is under\u2010recognized, the majority of FCS patients are diagnosed after age 20 often after consulting several physicians. Although other forms of severe HTG such as multifactorial chylomicronemia have been associated with high atherosclerotic cardiovascular disease (ASCVD) risk and metabolic abnormalities, ASCVD and metabolic syndrome are not usually observed in FCS patients. Because FCS is a genetic condition, the optimal diagnosis strategy remains genetic testing. The presence of bi\u2010allelic pathogenic mutations in\n                    <jats:italic>LPL<\/jats:italic>\n                    ,\n                    <jats:italic>APOC2<\/jats:italic>\n                    ,\n                    <jats:italic>GPIHBP1<\/jats:italic>\n                    ,\n                    <jats:italic>APOA5<\/jats:italic>\n                    or\n                    <jats:italic>LMF1<\/jats:italic>\n                    genes confirms the diagnosis. However, some cases of FCS caused by autoantibodies against LPL or GPIHBP1 proteins have also been reported. Furthermore, a clinical score for the diagnosis of FCS has been proposed but needs further validation. Available treatment options to lower triglycerides such as fibrates or omega\u20103 fatty acids are not efficacious in FCS patients. Currently, the cornerstone of treatment remains a lifelong very low\u2010fat diet, which prevents the formation of chylomicrons. Finally, inhibitors of apo C\u2010III and ANGPTL3 are in development and may eventually constitute additional treatment options for FCS patients.\n                  <\/jats:p>","DOI":"10.1111\/joim.13016","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T05:29:36Z","timestamp":1576474176000},"page":"340-348","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":133,"title":["Familial chylomicronemia syndrome: an under\u2010recognized cause of severe hypertriglyceridaemia"],"prefix":"10.1111","volume":"287","author":[{"given":"A.","family":"Baass","sequence":"first","affiliation":[{"name":"From the Lipids, Nutrition and Cardiovascular Prevention Clinic Montreal Clinical Research Institute Qu\u00e9bec Canada"},{"name":"Divisions of Experimental Medicine and Medical Biochemistry Department of Medicine McGill University Qu\u00e9bec 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