Familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body. The condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly) and small yellow skin lesions called eruptive xanthomas.

This condition affects about 1 per million people worldwide. It is much more common in some areas of the province of Quebec, Canada.

Mutations in the LPL gene cause familial lipoprotein lipase deficiency.

The LPL gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fat-carrying molecules (lipoproteins). Lipoproteins normally carry fat molecules from the intestine into the bloodstream. As lipoproteins are broken down, they release fats that the body uses for energy or puts into storage. Mutations in the LPL gene prevent the enzyme from breaking down lipoproteins effectively. As a result, fatty substances build up in the bloodstream, leading to the signs and symptoms of familial lipoprotein lipase deficiency.

Read more about the LPL gene.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.