Lipoprotein lipase deficiency

Lipoprotein lipase deficiency (LPLD) is a rare, autosomal recessive metabolic disease. Due to a mutation in the gene of lipoprotein lipase (LPL), the produced LPL enzymes are defective or functionally restricted.

LPL enzymes are needed for the breakdown and processing of chylomicrons, which carry triglycerides in the body. When this processing is disturbed, the concentration of triglyceride fats in the blood increases by a multiple (10-100x).

The mostly still young patients report diffuse abdominal pain, as well as intolerances to milk and fatty foods. Elevated blood lipid levels may be the trigger for recurrent pancreatitis with sequential necrosis and increased risk of pancreatic cancer.

Acute pancreatitis may be fatal. Furthermore, as a result of inflammation, pancreatic insufficiency may result, which may manifest as diabetes or other gastrointestinal distress. Patients should always pay attention to a low-fat diet and abstain from alcohol.