Familial Hepatic Lipase Deficiency

Abstract

We have described a kindred with familial hepatic lipase (HL) deficiency [1]. The proband presented with marked hyperlipoproteinemia and β-VLDL and was originally thought to have Type III hyperlipoproteinemia. However, he was investigated further because of an unusually high proportion of triglyceride in low density and high density lipoproteins and a slightly reduced post-heparin lipolytic activity. Subsequently he, his brother and other family members were discovered to have a marked reduction in hepatic lipase, with gross changes in plasma lipoprotein composition and premature vascular disease. Characterization of the lipoprotein abnormalities has allowed us to evaluate the role of HL in human lipoprotein metabolism and to make inferences about the relationships between the composition of their lipoproteins and atherogenicity.