Coronary artery disease and bile acid synthesis in familial hypercholesterolemia.

A cohort of 97 consecutive patients (mean age 43 years), heterozygous for familial hypercholesterolemia (FH) with tendon xanthomata, were studied to explore the possible association of coronary artery disease (CAD) with classical risk factors of CAD and parameters of cholesterol metabolism, including cholesterol and bile acid synthesis. Seventy percent of the patients had CAD. Male sex, advanced age (in females), increased blood pressure (in females), obesity (in males), short stature and clinical signs of tissue deposition of cholesterol were more common in the patients with than without CAD. Serum total and LDL-cholesterol and triglyceride levels were not associated with the presence of CAD. As compared with normolipidemic healthy subjects, studied under similar conditions, the bile acid synthesis was subnormal in FH. However, the low bile acid values were associated with CAD, especially in men, while the bile acid formation was within the normal limits in the healthy FH patients. The findings suggest that FH patients with a low bile acid synthesis have an increased risk to develop coronary heart disease by an unknown mechanism.