Familial hepatic lipase (HL) deficiency is a rare autosomal recessive inherited disorder of the triglyceride metabolism. The disease is caused by pathogenic variants in the LIPC gene. Patients show variable expression of hypertriglyceridemia and mild hypercholesterolemia. Severe hypertriglyceridemic conditions can lead to eruptive xanthomas and pancreatitis. Patients with genetic HL deficiency seem to have a moderately increased coronary risk. Therapy involves diet and triglyceride-lowering drugs (fibrates) or antioxidants (nicotinic acid). In some cases, HMG-CoA reductase inhibitors have also been successfully used. However, the role of plasmatic HL activity in atherogenesis remains unclear. In hypertriglyceridemic conditions, HL activity is positively associated with atherosclerosis, whereas an inverse correlation has been demonstrated in hypercholesterolemic individuals.
Holleboom et al. 2008, Curr Opin Lipidol 19:385 / Ruel et al. 2005, Arterioscler Thromb Vasc Biol 25:2600 / Brunzell et Deeb in Scriver et al. 2001 (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th Ed, Chapter 117