This disorder is characterized by greatly elevated levels of exogenous triacylglycerols and it is the result of impaired lipolysis of chylomicrons due to a deficiency of LPL or its activator, the apo C-II. Several genetic mutations at the structural genes for both LPL and apo C-II have been reported. These are autosomal recessive traits. In the heterozygous state, subjects have normal to slightly elevated plasma triglycerides, whereas homozygotes have triacylgly-cerol levels that may exceed 1000 mgdl-1 in the fasting state. The diagnosis of the homozygous state takes place during the first years of life from the presence of recurrent abdominal pain and pancreatitis. Eruptive xanthomas and lipemia retinalis may also occur.
The recommended treatment includes a diet low in simple carbohydrates and with a fat content below 20% of total energy. The use of medium-chain triglycerides (MCT) has also been reported to be efficacious. Body weight should be maintained within the normal limits and alcohol consumption should be avoided.
Fasting chylomicronemia has not been clearly associated with increased risk for atherosclerosis; however, there is considerable evidence supporting the atherogenic properties of chylomicron remnants.
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