Familial lipoprotein lipase defici... Health Article

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 chylomicronemia

Causes, incidence, and risk factors

Familial lipoprotein lipase deficiency is usually caused by a defective gene that is passed down through families.

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.

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

Symptoms

• Abdominal pain (may appear as colic in infancy)
• Loss of appetite
• Nausea
• Pain in the muscles and bones (musculoskeletal pain)
• Vomiting

Signs and tests

Signs of this condition include:

• Failure to thrive in infancy
• Fatty deposits in the skin (xanthomas)
• Many unexplained episodes of pancreatitis
• Pale retinas and white-colored blood vessels in the retinas
• Swollen liver and spleen
• Very high triglycerides in the blood
• Yellowing of the eyes and skin (jaundice)

Blood tests will be done to check cholesterol and triglyceride levels. A special blood test may be done after you are given blood thinners through a vein. This test looks for lipoprotein lipase activity in your blood.

Genetic tests may be done, including one for apolipoprotein CII deficiency.

Treatment

Treatment aims to control the symptoms and blood triglyceride levels with a very low-fat diet. You should eat no more than 20 grams of fat per day to prevent the symptoms from coming back.

Twenty grams of fat is equal to one of the following:

• 2 8-ounce glasses of whole milk
• 4 teaspoons of margarine
• 4-ounce serving of meat

The average American diet has a fat content of up to 45% of total calories. Fat-soluble vitamins A, D, E, and K and mineral supplements are recommended. Dietary counseling may be helpful for patients trying to stick to a strict diet and still get enough calories and nutrients.

Pancreatitis associated with lipoprotein lipase deficiency responds to treatments for that disorder.