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 a large amount of fat to build up in the blood.

  • Alternative Names
    • Type I hyperlipoproteinemia; Familial chylomicronemia; Familial LPL deficiency

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

      People with this condition lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.

      Risk factors include a family history of lipoprotein lipase deficiency.

      The condition is usually first seen during infancy or childhood.

  • Symptoms
    • Symptoms may include any of the following: 

      • Abdominal pain (may appear as colic in infancy)
      • Loss of appetite
      • Nausea
      • Pain in the muscles and bones (musculoskeletal pain)
      • Vomiting
  • Exams and Tests
    • Signs of this condition include:

      • Enlarged liver and spleen
      • Failure to thrive in infancy
      • Fatty deposits in the skin (xanthomas)
      • High triglyceride levels in the blood
      • Pale retinas and white-colored blood vessels in the retinas
      • Pancreatitis that keeps returning
      • Yellowing of the eyes and skin (jaundice)

      Blood tests will be done to check cholesterol and triglyceride levels. Sometimes, a special blood test is 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.

  • 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 (240 milliliters) glasses of whole milk
      • 4 teaspoons (20 grams) of margarine
      • 4 ounces (112 grams) 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 for people who eat a very low-fat diet. You may want to discuss your diet needs with a registered dietitian.

      Pancreatitis that is related to lipoprotein lipase deficiency responds to treatments for that disorder.

  • Outlook (Prognosis)
    • People with this condition who follow a very low-fat diet can live into adulthood.

  • Possible Complications
    • Pancreatitis and recurrent episodes of abdominal pain may develop.

      Xanthomas are not usually painful unless they are rubbed a lot.

  • When to Contact a Medical Professional
    • Call your health care provider for screening if someone in your family has lipoprotein lipase deficiency. Genetic counseling is recommended for anyone with a family history of this disease.

  • Prevention
    • There is no known prevention for this rare, inherited disorder. Awareness of risks may allow early detection. Following a very low-fat diet can improve the symptoms of this disease.

  • References
    • Ferri FF. Primary hyperlipoproteinemia. In: Ferri FF, ed. Ferri's Clinical Advisor 2015. Philadelphia: PA Elsevier Mosby; 2015:611-612.

      Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 213.