The Institute of Cardiovascular Science, University College London (UCL), Gower Street, London, WC1E 6BT, UK.
Curr Cardiol Rep. 2022 Nov;24(11):1669-1677. doi: 10.1007/s11886-022-01783-5. Epub 2022 Sep 9.
The current review discusses the importance and significance of differentiating monogenic familial hypercholesterolemia (FH) from polygenic hypercholesterolemia for clinical purpose.
Consistent scientific evidence have demonstrated that, compared to polygenic hypercholesterolemia, monogenic FH patients are at significantly higher risk for premature coronary heart disease (CHD). This is despite both disease entities having a comparable low-density-lipoprotein cholesterol (LDLC) level. Monogenic FH also has poorer therapeutic response compared to its polygenic counterpart. However, there are no current available clinical management guidelines that stratify hypercholesterolemia patients based on genotype. Monogenic FH patients are at higher risk for CHD with poorer therapeutic response. Thus, genotype testing should be performed when available. There is also an urgency to develop genotype-based clinical guideline that stratify patients on genotype and not only based on traditionally known cardiovascular risk factors.
本综述讨论了区分单基因家族性高胆固醇血症（FH）和多基因高胆固醇血症对于临床目的的重要性和意义。
一致的科学证据表明，与多基因高胆固醇血症相比，单基因 FH 患者发生早发性冠心病（CHD）的风险显著更高。尽管这两种疾病实体的低密度脂蛋白胆固醇（LDLC）水平相当。与多基因 FH 相比，单基因 FH 的治疗反应也较差。然而，目前没有基于基因型分层高胆固醇血症患者的临床管理指南。单基因 FH 患者发生 CHD 的风险更高，治疗反应更差。因此，应在有条件时进行基因型检测。也迫切需要制定基于基因型的临床指南，根据基因型对患者进行分层，而不仅仅是基于传统的心血管危险因素。
