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| Definition: |
An inherited disorder associated with abnormal lipid (fat) metabolism in which chylomicrons (a type of lipids) accumulate to massive levels in the plasma.
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| Alternative Names: |
Familial Lipoprotein Lipase Deficiency
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| 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): |
| 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. |
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Review Date: 11/16/2001
Reviewed By: Sarah Pressman Lovinger, M.D., General Internist at Boston Medical Center, Boston, MA. Review provided by VeriMed Healthcare Network.
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