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LPL gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LPL gene

The LPL gene provides instructions for producing the lipoprotein lipase enzyme, which is essential for breaking down fats in the bloodstream.

Normal Function

The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and in fatty (adipose) tissue. Lipoprotein lipase plays a critical role in breaking down fat in the form of triglycerides, which are carried from various organs to the blood by molecules called lipoproteins.

Lipoprotein lipase breaks down triglycerides carried by two different types of lipoproteins: chylomicrons, which transport dietary fat from the intestine, and very low density lipoprotein (VLDL), which carries triglycerides from the liver. Once broken down, these fat molecules are used by the body as energy or stored in fatty tissue.

Health Conditions Related to Genetic Changes

Familial lipoprotein lipase deficiency

More than 220 mutations in the LPL gene have been found to cause familial lipoprotein lipase deficiency. This condition disrupts the normal breakdown of triglycerides, leading to their accumulation in the blood and tissues. Common symptoms include:

  • Inflammation of the pancreas (pancreatitis)
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Fatty deposits in the skin (eruptive xanthomas)

The most common mutation in people of European ancestry is the replacement of the amino acid glycine with glutamic acid at position 188 (Gly188Glu or G188E).

Other disorders

Certain variations in the LPL gene can influence fat levels in the bloodstream. If the enzyme is impaired, it can lead to hyperlipidemia, which increases the risk of atherosclerosis. This condition involves the accumulation of fatty deposits on artery walls, which can harden and block arteries, increasing the risk of heart attack or stroke.

Frequently Asked Questions

The risk of acute pancreatitis escalates significantly when serum triglyceride levels surpass 1,000 mg/dL (11.3 mmol/L), though patients with complete LPL deficiency often present with circulating levels well above 2,000 to 5,000 mg/dL. Any sudden onset of persistent epigastric pain radiating to the back, accompanied by nausea or vomiting, requires immediate emergency evaluation to assess pancreatic enzymes and initiate treatment.
Pregnancy induces a physiological surge in maternal estrogen, which substantially increases hepatic triglyceride production and can trigger catastrophic hypertriglyceridemic pancreatitis in women with LPL deficiency. Management requires pre-conception planning, close multidisciplinary monitoring with a maternal-fetal medicine specialist and a lipidologist, strict dietary fat limitation, and occasionally regular therapeutic plasma exchange (plasmapheresis) or intravenous insulin infusions if levels rise uncontrollably.
Because standard lipid-lowering drugs like statins and fibrates rely on functional lipoprotein lipase to clear triglycerides, strict dietary management is the foundation of therapy. Patients must follow an ultra-low-fat diet, restricting total dietary fat intake to less than 15 to 20 grams per day (or under 10 to 15 percent of total daily caloric intake). Medium-chain triglyceride (MCT) oils can be used for caloric support because they are absorbed directly into the portal vein without requiring chylomicron formation.
Eruptive xanthomas appear as crops of small, firm, yellowish-orange papules surrounded by an erythematous ring, typically distributed across the buttocks, shoulders, extensor surfaces of the arms, and knees. Unlike inflammatory skin conditions, they represent accumulations of lipid-laden macrophages in the dermis and rapidly shrink or resolve once plasma triglyceride levels are brought below critical thresholds.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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