Familial lipoprotein lipase deficiency

Alternative names:

type I hyperlipoproteinemia

Definition:

A rare genetic disorder of a deficiency in an enzyme (lipoprotein lipase) that breaks down fat molecules, causing the accumulation of large quantities of fat or lipoproteins in the blood.

Causes, incidence, and risk factors:

A defective gene is the cause of this disorder, which usually becomes apparent in infancy or early childhood. There is an elevation of chylomicrons (small droplets of fat made in the stomach or small intestine that carry food particles into the blood stream) in the blood. The chylomicrons are not broken down normally because of the deficiency of the lipoprotein lipase enzyme. This causes inflammation of the pancreas and resulting abdominal pain. Skin lesions called xanthomas form as a result of deposits of these chylomicrons in the skin. The blood itself appears pale and creamy. Risk factors are a family history of high triglycerides in the blood, a previous history of pancreatitis, and failure to thrive in infancy. The incidence is 1 out of 1,000,000 people.