Spectrum of genetic variants in patients suffering from familial chylomicronaemia syndrome and multifactorial chylomicronaemia syndrome

Background and Aims: Familial chylomicronaemia syndrome (FCS) is a rare, inherited, autosomal recessive disorder characterised by impaired clearance of triglyceride (TG)-rich lipoprotein from plasma, leading to severe hypertriglyceridemia and a markedly increased risk of acute pancreatitis. It is due to pathogenic variants in genes involved in metabolism of TG-rich lipoprotein (LPL, APOA5, APOC2, GPIHBP1 and LMF1). High levels of TG are more often due to multifactorial chylomicronaemia syndrome (MCS), due to the combination of predisposing variants in candidate genes with co-morbidities and environmental factors. We aimed to screen 28 unrelated patients with severe hypertriglyceridemia, recruited based on plasma TG>10 mmol/L.