Lipoprotein Lipase Deficiency (LPL)
Lipoprotein lipase deficiency is an autosomal recessive condition caused by pathogenic variants in the gene LPL. It prevents the body from properly processing fats, which then build up in various organs. Symptoms usually begin in childhood and include abdominal pain, episodes of acute pancreatitis (inflammation of the pancreas), deposits of cholesterol under the skin (xanthomas), and an enlarged liver and spleen. Lipoprotein lipase deficiency is treated with a very low-fat diet, which can eliminate symptoms and allow affected individuals to live relatively normal lives. Life expectancy is normal for affected individuals who maintain the low-fat diet. It is not currently possible to predict how severe the disease will be based on the type of pathogenic variant inherited. Lipoprotein lipase deficiency may affect people of any ethnicity, but it is more common among people who are French Canadian.
For information about carrier frequency and residual risk, please see the residual risk table.