title: Genetics of type III hyperlipoproteinemia.
abstract: One hundred forty-seven relatives of 43 patients with "classical" type 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 in these families. In 12 pedigrees primary dyslipidemia was prevalent among patients and respective blood-relatives. In these kindreds the coexistent presence of genes for familial combined hyperlipidemia (n = 6), familial hypertriglyceridemia (n = 5), and familial hypercholesterolemia (n = 1), respectively, was supposed. Our results, therefore, confirm and extend previous data on the multifactorial genesis of the diseases. Besides homozygosity for a receptor binding-defective isoform of 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.
authors.affiliation: Abteilung Innere Medizin I, Medizinische Universitätsklinik Heidelberg, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Feussner
authors.forename: S
authors.initials: S
authors.lastname: Piesch
authors.forename: J
authors.initials: J
authors.lastname: Dobmeyer
authors.forename: C
authors.initials: C
authors.lastname: Fischer
mesh_terms: D000328:Adult; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000235:genetics; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000235:genetics*; D007525:Isoelectric Focusing; D008071:Lipoprotein Lipase / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018709:Statistics, Nonparametric
chemical_list: D001057:Apolipoproteins E; D008074:Lipoproteins; D008071:Lipoprotein Lipase