Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Hepatic Lipase Deficiency, familial [E78.4]

OMIM numbers: 614025, 151670 (LIPC)

Dr. med. Hanns-Georg Klein

Scientific Background

Familial hepatic lipase (HL) deficiency is a rare autosomal recessive disease of the triglyceride metabolism. The disease is caused by mutations in the LIPC gene. The patients display hypertriglyceridemia of varying severity and mild hypercholesterolemia. Severe hypertriglyceridemic states can lead to eruptive xanthomas and pancreatitis. Patients with genetic HL deficiency seem to be at a moderately increased coronary risk. The disease is treated with fasting and medication lowering triglyceride levels (fibrates) or antioxidants (nicotinic acid). In some cases, HMG-CoA reductase inhibitors were successfully used. The significance of plasma HL activity regarding atherogenesis is unclear. In hypertriglyceridemic states HL activity has been positively correlated with atherosclerosis. Inverse correlation was detected in hypercholesterinemic individuals.