An inherited disorder associated with abnormal lipid (fat) metabolism in which chylomicrons (a type of lipids) accumulate to massive levels in the plasma.

Alternative Names

Familial Lipoprotein Lipase Deficiency

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.

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)

Disease manifestations tend to recede dramatically when patients adhere to the 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

Other than adherence to a fat-free diet, there is no way to prevent these disorders, as they are inherited.