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.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Lipoprotein Lipase DeficiencyLPL1-8 [10] (*7)ARCaucasian< 1 in 50040%0.00120048019207683
Lipoprotein Lipase DeficiencyLPL1-8 [10] (*7)ARAsian1 in 18940%0.00318471337579618
Lipoprotein Lipase DeficiencyLPL1-8 [10] (*7)ARWorldwide1 in 50078%0.000440722785368004
Lipoprotein Lipase DeficiencyLPL1-8 [10] (*7)ARFrench Canadian – Saguenay-Lac St. Jean1 in 46>95%0.00110987791342952
Lipoprotein Lipase DeficiencyLPL1-8 [10] (*7)ARFrench Canadian – Other1 in 139>95%0.000362187613183629