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.
Defects in apolipoprotein CII and apolipoprotein AV can cause the syndrome as well. It is more likely to occur when people who are predisposed to have high triglycerides (such as those who have familial combined hyperlipidemia or familial hypertriglyceridemia) develop diabetes, obesity or are exposed to certain medicines.
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 health care provider. Conditions such as dehydration and diabetes can make symptoms worse. If diagnosed, these conditions need to 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 medical care right away if you have abdominal pain or other warning signs of pancreatitis.
Call your provider if you have a personal or family history of high triglyceride levels.
There is no way to prevent someone from inheriting this syndrome.
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Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 206.
- Last reviewed on 5/5/2016
- Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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