Familial lipoprotein lipase deficiency
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.
Alternative Names
Type I hyperlipoproteinemia; Familial chylomicronemiaCauses
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.
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