Characteristics of 46 Heterozygous Carriers and 57 Unaffected Relatives in Five Danish Families With Familial Defective Apolipoprotein B-100

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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 (P50 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. The haplotype background for the apo B-3500 mutation in these Danish families, as defined with seven markers, was comparable to that found in kindreds from the United States, Canada, Austria, Italy, and Germany.

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