Haemostatic variables were measured in 61 patients with heterozygous familial hypercholesterolaemia, 32 of whom had evidence of coronary heart disease. Age adjusted mean concentrations of plasma fibrinogen and factor VIII were significantly higher in these patients than in the 29 patients without coronary heart disease, but there were no significant differences in serum lipid concentrations bet...

DNA samples from 70 unrelated UK patients with heterozygous familial hypercholesterolaemia were screened by Southern blot hybridisation with a 5' fragment of the human low density lipoprotein (LDL) receptor cDNA. In the majority of cases, the restriction fragment pattern of the LDL receptor gene was indistinguishable from that observed in normal subjects. However, three patients were found to h...

Coronary artery disease (CAD) was investigated by selective coronary cine angiography in 94 White, 59 Indian and 17 Black patients, and correlated with plasma cholesterol and triglyceride levels and glucose tolerance. CAD was found in 94%, 97% and 82%, and hypercholesterolaemia in 68%, 61% and 50% of the Whites, Indians and Blacks respectively. In the White group, cholesterol levels correlated ...