title: Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100.
abstract: Plasma concentrations of cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein (apo) B, and lipoprotein(a) (Lp[a]) in 46 persons heterozygous for the apo B-3500 mutation causing familial defective apo B-100 (FDB) were compared with those in 57 non-FDB relatives. FDB patients had 50% to 70% higher mean concentrations of cholesterol, LDL cholesterol, and apo B than non-FDB relatives (P < 10(-4) for all three variables). Triglycerides were higher (P = .016) and HDL cholesterol was lower (P = .021) in FDB patients. The concentration ranges of these variables were broad in each family, and there was no between-family difference in means for cholesterol and LDL cholesterol. There was no phenotype-specific difference in Lp(a) concentrations between FDB patients and non-FDB relatives. Apo E4 is normally associated with higher concentrations of LDL and apo E2 with lower concentrations. This relation was partly reversed in FDB patients: apo E4 was associated with lower apo B concentrations and apo E2 with higher apo B concentrations. Tendon xanthomata were found in members of two of the five families. Six of 12 FDB patients > 50 years old had atherosclerotic disease. In contrast, all 18 non-FDB relatives > 50 years old were apparently healthy. A total of 8 FDB patients with atherosclerotic disease had 36% higher cholesterol concentrations, 28% higher apo B concentrations, 50% higher triglyceride concentrations, and 120% higher Lp(a) concentrations than FDB patients without clinical atherosclerosis.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Department of Internal Medicine and Cardiology A, Aarhus Amtsygehus University Hospital, Denmark.
authors.forename: P S
authors.initials: PS
authors.lastname: Hansen
authors.forename: H
authors.initials: H
authors.lastname: Meinertz
authors.forename: H K
authors.initials: HK
authors.lastname: Jensen
authors.forename: P
authors.initials: P
authors.lastname: Fruergaard
authors.forename: J
authors.initials: J
authors.lastname: Launbjerg
authors.forename: I C
authors.initials: IC
authors.lastname: Klausen
authors.forename: L
authors.initials: L
authors.lastname: Lemming
authors.forename: U
authors.initials: U
authors.lastname: Gerdes
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: O
authors.initials: O
authors.lastname: Faergeman
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000032:analysis / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D001161:Arteriosclerosis / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003718:Denmark; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009994:Osmolar Concentration; D011110:Polymorphism, Genetic; D012016:Reference Values
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D001057:Apolipoproteins E; D008078:Cholesterol, LDL; D002784:Cholesterol