GENETICS OF TYPE-III HYPERLIPOPROTEINEMIA

One hundred forty-seven relatives of 43 patients with ''classical'' ty pe III hyperlipoproteinemia (HLP) having the apolipoprotein (apo) E2/2 phenotype were studied to determine the occurrence of hyperlipidemia and the presence of further possible genes for lipoprotein disorders i n these families. In 12 pedigrees primary dyslipidemia was prevalent a mong patients and respective blood-relatives. In these kindreds the co existent presence of genes for familial combined hyperlipidemia (n = 6 ), familial hypertriglyceridemia (n = 5), and familial hypercholestero lemia (n = 1), respectively, was supposed. Our results, therefore, con firm and extend previous data on the multifactorial genesis of the dis eases. Besides homozygosity for a receptor binding-defective isoform o f apo E (apo E2), additional genes for familial lipoprotein disorders might operate in the pathogenesis of type III HLP. This is the largest family study performed so far in this primary lipoprotein disorder. ( C) 1997 Wiley-Liss, Inc.