Abstract: Familial hypercholesterolemia (FH) is a rare autosomal dominant inherited disease which is caused by the gene mutation of the low density lipoprotein receptor (LDLR) leading to the increase of low density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) in blood plasma, cutaneous xanthoma and atherosclerosis. The main reason of death is the complication of the cardiovascular system disease. There is significant value in the diagnosis and monitoring of FH by imageology (ultrasound, radiation, magnetic resonance and nuclear medicine and so on), such as observing the atherosclerosis and heart structure by ultrasound, judging the stenosis of coronary artery by computed tomographic coronary angiography (CTCA, evaluating quality and feature of carotid plaque by magnetic resonance, and monitoring the myocardial blood supply by myocardial perfusion imaging (MPI). We will get heart risk stratification, monitor the complication of the cardiovascular system disease and evaluate therapeutic efficacy through making up for each other's deficiencies of imaging methods. The clinical value in diagnosis of FH by imageology is reviewed in this article.