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Chylomicronemia syndrome is a disorder in which the body does not break down fats (lipids) correctly. This causes fat particles called chylomicrons to build up in the blood. The disorder is passed down through families.
Familial lipoprotein lipase deficiency
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. It helps break down certain lipids. When LpL is missing or broken, fat particles called chylomicrons build up in the blood. This buildup is called chylomicronemia.
Symptoms may start in infancy and include:
- Abdominal pain due to pancreatitis (inflammation of the pancreas)
- Symptoms of nerve damage such as loss of feeling in the feet or legs, and memory loss
- Yellow deposits of fatty material in the skin called xanthomas. These growths may appear on the back, buttocks, soles of the feet, or knees and elbows.
Exams and Tests
A physical exam and tests may show:
- Enlarged liver and spleen
- Inflammation of the pancreas
- Fatty deposits under the skin
- Possibly fatty deposits in the retina of the eye
A creamy layer will appear when blood spins in a laboratory machine. This layer is due to chylomicrons in the blood.
The triglyceride level is extremely high.
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 that can make symptoms worse, such as diabetes, should be treated and controlled.
A fat-free diet can reduce symptoms dramatically.
When untreated, the excess chylomicrons may lead to bouts of pancreatitis. This condition can be very painful and even life threatening. There seems to be no increased risk for atherosclerotic heart disease.
When to Contact a Medical Professional
Seek immediate medical care if you have abdominal pain or other warning signs of pancreatitis.
Call your health care provider if you have a personal or family history of high triglyceride levels.
There is no way to prevent someone from inheriting this syndrome.
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. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 213.
- Last reviewed on 5/20/2014
- Larry A. Weinrauch MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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This page was last updated: May 4, 2015