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Hepatomegaly
Hepatomegaly


Chylomicronemia syndrome

Definition:

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



Symptoms:

Symptoms may start in infancy and include:

  • Abdominal pain due to pancreatitis (inflammation of the pancreas)
  • Yellow deposits of fatty material in the skin called xanthomas may appear on the eyelids, palms of the hands, soles of the feet, or on the extensor surfaces of the knees and elbows


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 creamy layer due to chylomicrons in the blood will appear when blood spins in a laboratory machine.

The triglyceride level is extremely high.



Treatment:

A completely fat-free diet is required.



Support Groups:



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 and even life threatening. There seems to be no increased risk for atherosclerotic heart disease.



Calling your health care provider:

Seek immediate medical care if you have abdominal pain or other warning signs of pancreatitis.

Call for an appointment with your health care provider if you have a personal or family history of high triglyceride levels.



Prevention:

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



References:

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.




Review Date: 5/23/2010
Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.

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