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Chylomicronemia syndrome


Alternative names

Familial Lipoprotein Lipase Deficiency

Definition

Chylomicronemia syndrome is an inherited disorder in which abnormal lipid (fat) metabolism causes chylomicrons (a type of lipids) to accumulate to massive levels in the blood.

Causes, incidence, and risk factors

Chylomicronemia syndrome results from impaired or absent lipoprotein lipase (LPL), an enzyme in fat and muscle responsible for the breakdown of certain lipids. In addition to Familial Lipoprotein Lipase Deficiency, a large accumulation of chylomicrons may also be seen in people with Familial Apoprotein CII Deficiency.

Symptoms

Symptoms of Familial Lipoprotein Lipase Deficiency may start in infancy and include deposits of slightly discolored tissue on the eyelids and abdominal pain due to pancreatitis (inflammation of the pancreas).

Signs and tests

Examination and tests may reveal 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 is centrifuged. The triglyceride level is extremely elevated.

Treatment

A completely fat-free diet is required.

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. There seems to be no increased risk for atherosclerotic heart disease .

Calling your health care provider

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 .

Prevention

There is no way to prevent these inherited disorders, but adherence to a fat-free diet can prevent symptoms.

Update Date: 8/18/2003

David Webner, M.D., Sports Medicine Fellow, Crozer-Keystone Family Practice Program, Springfield, PA. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT
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