Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100.
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)
Hansen
P S
PS
Department of Internal Medicine and Cardiology A, Aarhus Amtsygehus University Hospital, Denmark.
Meinertz
H
H
Jensen
H K
HK
Fruergaard
P
P
Launbjerg
J
J
Klausen
I C
IC
Lemming
L
L
Gerdes
U
U
Gregersen
N
N
Faergeman
O
O
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
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D001057:Apolipoproteins E; D008078:Cholesterol, LDL; D002784:Cholesterol