Familial lipoprotein lipase deficiency
Alternate Names : Type I hyperlipoproteinemia, Familial chylomicronemia
Definition
Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed to break down fat molecules. The disorder causes large amounts of fat to build up in the blood.
Overview, Causes, & Risk Factors
Familial lipoprotein lipase deficiency is usually caused by a defective gene that is passed down through families. Persons with this condition do not have a substance called lipoprotein lipase. Without this, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.
Risk factors include family history of lipoprotein lipase deficiency. The disorder affects about 1 out of 1,000,000 people. The condition is usually first seen during infancy or childhood.
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