A defective gene is usually the cause of this disorder, which is inherited in an autosomal recessive manner. Blood tests show a high level of chylomicrons, a lipoprotein that carries fat from digested food into the blood stream. The chylomicrons are not broken down properly because of the deficiency of the lipoprotein lipase enzyme. This results in a build-up of fat-laden chylomicrons in the blood. Skin lesions (xanthomas) form as a result of deposits of these chylomicrons in the skin. There is inflammation of the pancreas and resulting abdominal pain. Risk factors are a family history of lipoprotein lipase deficiency, very high triglycerides in the blood, multiple unexplained episodes of pancreatitis, and failure to thrive in infancy. The incidence is 1 out of 1,000,000 people. The disease usually shows up in infancy or early childhood.
| 
