mechanism of development of type III hyperlipidaemia

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  • usually type III hyperlipidaemia occurs as a result of an autosomal recessively inherited condition (with variable penetrance)
    • there is impaired binding of apoE to its receptor
      • as a result of a mutation of polymorphism of the apo E gene
      • most common mutation is polymorphism, apo E2 (cysteine is substituted for arginine at position 158) - in 90% of cases of type III hyperlipidaemia patients are homozygous for apo E2
      • apo E2 homozygosity may not, in itself, cause hyperlipoprolipoproteinaemia (apo E2 homozygosity occurs in about 1% of population) - another condition that results in an additional catabolic effect or overproduction of VLDL may be required. This explains why type III hyperlipidaemia may be associated with conditions such as diabetes or hypothyroidism. Other possible circumstances where type III hyperlipidaemia may develop with apo E2 homozygosity include co-inheritance of a polygenic tendency to hypertriglyceridaemia, high alcohol intake and obesity
      • other mutations of apo E have been described including an apo E deficiency; also a mutation of the apo E receptor-binding domain have been described which results in type III hyperlipidaemia in heterozygote

Last reviewed 04/2021