Development of coronary atherosclerosis in asymptomatic heterozygous patients with familial hypercholesterolemia.

To determine whether coronary atherosclerosis develops with age in asymptomatic patients with familial hypercholesterolemia (FH) and whether long-term cholesterol-lowering therapy is effective for primary prevention of coronary artery disease (CAD) in such patients, 13 patients with heterozygous FH (10 men, 3 women, aged 34 to 66 years) were examined by coronary angiography, and followed up for 5.8 +/- 3.4 years. The extent of coronary atherosclerosis was expressed as the coronary score (CS) by scoring (0 to 5) points in each of 15 American Heart Association segments. The mean CS was 2.4 times higher in men than in women (11.5 +/- 7.9 vs 4.7 +/- 4.2) although the mean age was lower in the former than in the latter (51.2 +/- 8.4 vs 57.7 +/- 0.6 years). In men, CS correlated significantly with age (CS = 0.682 x age-24.4; r = 0.800, p < 0.01). All patients except one had received cholesterol-lowering agents throughout the follow-up period. The untreated patient developed CAD 7 years later. One treated patient also developed CAD, but within 6 months of enrollment in this study. The other 11 treated patients did not develop CAD. Reexamination by coronary angiography in two of these patients revealed no significant progression after 6-year treatment. Coronary atherosclerosis develops with age in asymptomatic FH patients and long-term cholesterol-lowering therapy may be effective for primary prevention of CAD in such patients.