Familial lipoprotein lipase deficiency

What is 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.

How common is familial lipoprotein lipase deficiency?

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

What genes are related to familial lipoprotein lipase deficiency?

Mutations in the LPL gene cause familial lipoprotein lipase deficiency.

The protein made by the LPL gene, lipoprotein lipase, is an enzyme that helps break down fat-carrying molecules (lipoproteins). Lipoproteins normally carry fat molecules from digested food into the bloodstream. As lipoproteins are broken down, they release fats 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.

How do people inherit familial lipoprotein lipase deficiency?

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

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