부산대학교 도서관

Heterozygous familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism, leading to severely elevated low-density lipoprotein-cholesterol levels and an increased risk of cardiovascular disease (CVD). Despite the monogenic cause of FH, CVD susceptibility varies considerably. Traditional risk factors, a specific low-density lipoprotein receptor mutation and modifier genes have been suggested to influence susceptibility to CVD. With the completion of the Human Genome Project and the availability of high throughput molecular methods, we expect that the creation of a genetic fingerprint of CVD risk in FH is feasible in the coming years. The challenge remains to link genetic data and clinical information to refine individualized approaches to CVD care in FH patients.