Chylomicronemia syndrome
Information, Symptoms, Treatments and Resources
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.
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 may start in infancy and include:
- Abdominal pain due to pancreatitis (inflammation of the pancreas)
- Deposits of slightly discolored tissue on the eyelids
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.
Symptoms tend to be dramatically reduced when patients adhere to a fat-free diet.
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.
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.
There is no way to prevent this syndrome, but sticking to a fat-free diet can prevent its symptoms.
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.
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