Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization:A case report  

作　　者：Liu Yang Yan-Yan Xiao Liang Shao Chang-Sheng Ouyang Yao Hu Bin Li Li-Feng Lei Hong Wang 

机构地区：[1]Department of Cardiology,Jiangxi Provincial People's Hospital,The First Affiliated Hospital of Nanchang Medical College,Nanchang 330006,Jiangxi Province,China [2]Postgraduate School of Jiangxi University of Traditional Chinese Medicine,Jiangxi University of Traditional Chinese Medicine,Nanchang 330008,Jiangxi Province,China [3]Department of Internal Medicine,Tonggu People's Hospital,Yichun 336299,Jiangxi Province,China

出　　处：《World Journal of Clinical Cases》2022年第19期6728-6735,共8页世界临床病例杂志

基　　金：the Doctor Start-up fund of Jiangxi provincial People's Hospital,The First Affiliated Hospital of Nanchang Medical College,No.19-236.

摘　　要：BACKGROUND Familial hypercholesterolemia(FH)is an autosomal dominant disorder that is characterized by severely increased low-density lipoprotein(LDL)cholesterol levels.At the same time,elevated LDL levels accelerated the development of coronary heart disease.Several classes of drugs are currently in use to treat FH.Proprotein convertase subtilisin/kexin type 9 inhibitor(PCSK9i)is novel one of these.CASE SUMMARY This manuscript reports a case of FH that responded modestly after treatment with PCSK9i and statin drugs.Of even more concern is that the patient frequently admitted to the hospital during a 12-year follow-up period.Subsequently,we identified a heterozygous mutation,1448G>A(W483X)of the LDL receptor(LDLR)in this patient.The serum levels of PCSK9(proprotein convertase subtilisin/kexin type 9)in the patient was 71.30±26.66 ng/mL,which is close the average level reported in the literature.This LDLR mutation affects LDLR metabolism or structure,which may make it unsuitable for use of PCSK9i.CONCLUSION Our outcome demonstrates that LDLR-W483X represents a partial loss-of-function LDLR and may contribute to PCSK9i ineffective. In the meanwhile, additional measures aretherefore required (particularly with gene sequencing or change the treatment plan) must beinitiated as early as possible. Genetic testing for clinically challenging cases who do not respond toPCSK9i therapy is very helpful.

关 键 词：Coronary artery disease Familial hypercholesterolemia Low-density lipoprotein receptor mutation Non response Proprotein convertase subtilisin/kexin type 9 inhibitor 

分 类 号：R541.4[医药卫生—心血管疾病]