Definition of Familial lipoprotein lipase deficiency:

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.

Causes, incidence, and risk factors:

Familial lipoprotein lipase deficiency is usually caused by a defective gene. The gene is passed down through families in an autosomal recessive manner.

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
• Very high triglycerides in the blood
• Multiple unexplained episodes of pancreatitis
• Failure to thrive in infancy

The disorder affects about 1 out of 1,000,000 people. The condition is usually first seen during infancy or childhood.