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Chylomicronemia syndrome

Contents of this page:



Alternative Names    Return to top

Familial lipoprotein lipase deficiency

Definition    Return to top

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.

Causes    Return to top

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    Return to top

Symptoms may start in infancy and include:

Exams and Tests    Return to top

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    Return to top

A completely fat-free diet is required.

Outlook (Prognosis)    Return to top

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

Possible Complications    Return to top

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.

When to Contact a Medical Professional    Return to top

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    Return to top

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

References    Return to top

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.

Update Date: 1/23/2008

Updated 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.

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