Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency, also known as hepatic lipase deficiency (HL deficiency), is a rare inherited disorder of lipoprotein metabolism caused by mutations in the LIPC gene, which encodes hepatic triglyceride lipase (HTGL). This enzyme plays a critical role in the metabolism of intermediate-density lipoproteins (IDL), high-density lipoproteins (HDL), and triglyceride-rich lipoproteins in the liver. When hepatic lipase is deficient or absent, patients develop a characteristic mixed hyperlipidemia with elevated levels of total cholesterol, triglycerides, and beta-VLDL (very low-density lipoproteins), along with abnormally buoyant HDL and LDL particles. The condition primarily affects the cardiovascular system. Patients may develop premature atherosclerosis and coronary artery disease due to the chronic accumulation of atherogenic lipoprotein remnants in the bloodstream. Some individuals may also present with xanthomas (lipid deposits in the skin or tendons) and corneal arcus, though the clinical presentation can be variable. The severity of cardiovascular complications may depend on additional genetic and environmental factors. Treatment is primarily focused on managing hyperlipidemia and reducing cardiovascular risk. Lipid-lowering therapies, including statins, fibrates, and dietary modifications (low-fat diet), are commonly employed, though their efficacy may vary given the specific metabolic defect. There is no enzyme replacement therapy currently available for this condition. Regular monitoring of lipid profiles and cardiovascular health is recommended. Genetic counseling is advised for affected families.

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