title: Apolipoprotein E phenotype and cholesterol metabolism in familial hypercholesterolemia.
abstract: Serum lipids, lipoproteins, cholesterol absorption and parameters of cholesterol metabolism were related to apolipoprotein E phenotypes in 38 patients with familial xanthomatous hypercholesterolemia. Serum lipids and lipoproteins were similar in 2 most frequent apo E phenotypes E 3/3 and E 4/3. Coronary artery disease was not related to the apo E phenotypes. Cholesterol absorption efficiency was significantly lower in the apo E 3/3 patients than in the apo E 4/3 group. A high serum level of cholesterol precursor lathosterol, a high lathosterol/sitosterol ratio and sterol balance data suggest that cholesterol synthesis may be slightly higher in the apo E 3/3 than E 4/3 group. The findings indicate that the genetically determined apo E polymorphism contributes to cholesterol absorption efficiency in FH patients, but serum total and lipoprotein cholesterol levels are poorly related to apo E isoforms.
authors.affiliation: Second Department of Medicine, University of Helsinki, Finland.
authors.forename: H
authors.initials: H
authors.lastname: Gylling
authors.forename: T
authors.initials: T
authors.lastname: Kuusi
authors.forename: H
authors.initials: H
authors.lastname: Vanhanen
authors.forename: T A
authors.initials: TA
authors.lastname: Miettinen
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D002784:Cholesterol / Q000096:biosynthesis / Q000097:blood / Q000378:metabolism*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D010641:Phenotype; D012855:Sitosterols / Q000097:blood
chemical_list: D001057:Apolipoproteins E; D008055:Lipids; D008074:Lipoproteins; D012855:Sitosterols; C001521:lathosterol; D002784:Cholesterol