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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 fat particles called chylomicrons to build up in the blood.

Alternative Names

Familial lipoprotein lipase deficiency

Causes, incidence, and risk factors

Chylomicronemia syndrome can occur due to a rare genetic disorder in which 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)
  • Neurological symptoms such as loss of feeling in the feet or legs, and memory loss
  • Yellow deposits of fatty material in the skin called xanthomas may appear on the back, buttocks, soles of the feet, or or 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 fat-free, alcohol-free diet is required. You may need to stop taking certain medicines that can make symptoms worse. Do not stop taking any medicine without first talking to your doctor. Conditions, such as diabetes, that can make symptoms worse should be treated and controlled.

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 someone from inheriting this syndrome.

References

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap 47.

Semenkovich, CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 213.

Updated: 6/4/2012

David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc. David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.


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