Familial hypercholesterolemia(FH)is an autosomal genetic disorder.The cause of FH is a significant increase in LDL-C levels due to mutations in low-density lipoprotein receptor(LDLR),apolipoprotein B(ApoB)or the proprotein convertase subtilisin/kexin type 9(PCSK9)genes.FH is much more harmful than common hypercholesterolemia.Homozygote FH can cause patients to develop coronary heart disease(CHD)before the age of 20,and life expectancy is generally not more than 30 years old.Heterozygote FH patients usually develop CHD before the age of 55 in men and before the age of 60 in women if untreated.FH patients untreated with statins have a 13-fold or higher risk of CHD compared to the general population.It is estimated that there are 2.6 to 6.5 million cases of heterozygote FH in China.Although lipid-lowering treatment such as statins has clearly delayed or prevented the occurrence of coronary vascular and cerebrovascular disease in FH patients,many patients do not know they have FH at the early stage,or know dyslipidemia but do not understand the harm of the disease,resulting in delayed treatment for a large number of patients.Lipid-lowering therapy is often not initiated until coronary vascular and cerebrovascular disease have developed,which imposes a heavy burden on families and society.In view of the above reasons,this study reviewed the research progress on epidemiology and genetics of FH,and pointed out that the adoption of appropriate methods for lipid screening,gene diagnosis for possible FH patients,as well as early detection and precise management of these high-risk patients are important measures to improve the management level of FH in China.
维普
万方数据