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Chylomicronemia syndrome

Chylomicronemia syndrome is a disorder passed down through families in which the body does not break down fats (lipids) correctly. This causes a type of fats called chylomicrons to build up in the blood.

  • Alternative Names

    Familial lipoprotein lipase deficiency

  • Causes, incidence, and risk factors

    Chylomicronemia syndrome is a rare genetic disorder. It occurs when a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle and helps break down certain lipids. When LpL is missing or broken, chylomicrons build up in the blood. This is called chylomicronemia.

  • Symptoms

    Symptoms may start in infancy and include:

    • Abdominal pain due to pancreatitis (inflammation of the pancreas)
    • Deposits of slightly discolored tissue on the eyelids
  • Signs and tests

    Examination and tests may show an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and possibly deposits in the retina of the eye.

    A layer of cream due to chylomicrons will appear when blood spins in a laboratory machine. The triglyceride level is extremely high.

  • Treatment

    A completely fat-free diet is required.

  • Expectations (prognosis)

    Symptoms tend to be dramatically reduced when patients adhere to a fat-free diet.

  • Complications

    When untreated, the excess chylomicrons may lead to bouts of pancreatitis, which can be extremely painful. There seems to be no increased risk for atherosclerotic heart disease.

  • Calling your health care provider

    Call your health care provider if you have any of the symptoms associated with this syndrome and you have not had your blood triglyceride levels measured, or if you are due for a routine physical examination.

  • Prevention

    There is no way to prevent this syndrome, but sticking to a fat-free diet can prevent its symptoms.

  • References

    Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1997;336(14):1026-1027.

Review Date: 1/23/2008

Reviewed By: Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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Christie Clinic at the Family Medical Center in Paris
727 East Court Street Paris, IL 61944 Dermatology: 366-1248; Vein and Vascular: 366-2670
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