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Chylomicronemia syndrome



Hepatomegaly
Hepatomegaly


Chylomicronemia syndrome

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.


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.




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