Type III or Familial Dysbetalipoproteinemia

In this disorder both plasma triacylglycerol and cholesterol are increased. Several mutations within the apo E gene locus have been found to be responsible for this disease; however, in most patients the complete expression of the clinical genotype needs additional interactions such as age, obesity, and diabetes. In addition to the accumulation in plasma of VLDL remnants and chylomicrons, other characteristics of this disorder are tuboeruptive xanthomas and in some cases also planar xanthomas. Therapies include diet and hypolipidemic agents such as fibrates, statin, or nicotinic acid. In most cases, diagnosis can be carried out first by agarose gel electrophoresis, followed by molecular biology techniques to detect the presence of the apo E-2 allele.

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