Characterization of two novel pathogenic variants at compound heterozygous status in Lipase Maturation Factor 1 (LMF1) gene causing severe hypertriglyceridemia

摘要

Background:Severe hypertriglyceridemia is a rare disease characterized by triglyceride levels higher than 1000 mg/dl (11.3 mmol/L) and acute pancreatitis. The disease is caused by pathogenic variants in genes encoding lipoprotein lipase (LPL), apolipoprotein A5 (APOA5), apolipoprotein C2 (APOC2), glycosylphosphatidylinositol-anchored high density lipoproteinbinding protein 1 (GPIHBP1) and lipase maturation factor 1 (LMF1).