Lp(a) concentration and apo(a) isoform size. Relation to the presence of coronary artery disease in familial hypercholesterolemia.

We studied the relation between the concentration of lipoprotein(a) [Lp(a)] in plasma, apolipoprotein (a) [apo(a)] phenotype, and the clinical expression of coronary artery disease (CAD) in a previously described cohort of patients with familial hypercholesterolemia (FH) and an appropriate population of control subjects. The plasma concentration of Lp(a) was markedly skewed in both the FH and control populations; however, the distribution was less skewed in FH (50% greater than 300 mg/L) compared with control subjects (27% greater than 300 mg/L). Patients with FH had significantly higher median and mean log Lp(a) levels compared with control subjects. There was no difference in the level of Lp(a) between men and women in both the control and FH groups. Frequency distribution analysis of the major apo(a) isoform size for each subject showed that, in contrast to the near-normal distribution seen in control subjects, two major subpopulations were apparent in the FH cohort, based on apo(a) isoform size > 700 ...