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Familial lipoprotein lipase deficiency   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Type I hyperlipoproteinemia; Familial chylomicronemia

Definition:

A group of rare genetic disorders characterized by deficient activity of an enzyme (lipoprotein lipase) that breaks down fat molecules, causing the accumulation of large quantities of fat (lipoproteins) in the blood.

Causes and Risks

A defective gene is usually the cause of this disorder, which is inherited in an autosomal recessive manner. Blood tests show an elevation of chylomicrons, a type of lipoprotein, which are small droplets of fat made in the small intestine that carry fats from digested food into the blood stream. The chylomicrons are not broken down normally because of the deficiency of the lipoprotein lipase enzyme. This results in a build up of fat-laden chylomicrons in blood such that the serum appears pale and creamy. 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, unexplained, multiple episodes of pancreatitis, and failure to thrive in infancy. The incidence is 1 out of 1,000,000 people. The disease usually becomes apparent in infancy or early childhood.

Ency. home > Disease > F > Familial lipoprotein lipase deficiency

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