Familial hypercholesterolemia (FH) refers to a disease characterized by a significant increase in plasma low-density lipoprotein cholesterol levels caused by genetic mutations. FH patients have clinical manifestations such as skin and tendon xanthoma or corneal arch and may also experience cardiovascular involvement, even leading to acute myocardial infarction and other diseases in severe cases. Therefore, early identification, diagnosis, and treatment of FH are particularly important. This article provides a review of the molecular pathological basis of FH and the research progress in its diagnosis and treatment.