摘要
本研究报道了1例29岁男性家族性高胆固醇血症(FH)患者,血浆低密度脂蛋白胆固醇(LDL-C)异常升高、合并黄色瘤且早发冠心病。遗传学分析显示该患者发生了低密度脂蛋白受体(LDLR)编码基因的复合杂合突变,属一种极其罕见的基因突变类型,该变异导致LDLR自身表达、摄取及结合LDL-C功能受损,使前蛋白转化酶枯草溶菌素9型(PCSK9)抑制剂效果不佳。基于遗传学诊断,个体化的给予患者PCSK9抑制剂、最大可耐受剂量他汀和依折麦布,并成功接受了冠状动脉介入治疗。
This study report a 29-year-old male diagnosed with familial hypercholesterolemia,elevated low-density lipoprotein cholesterol(LDL-C),xanthomas,and premature coronary heart disease.Genetic analysis revealed that this patient had a compound heterozygous mutated gene encoding the low-density lipoprotein receptor(LDLR).This rare genetic mutation can impaire LDLR expression,uptake,and LDL-C binding function,making pre-protein converting enzyme subtilisin 9(PCSK9)inhibitors less effective.Based on genetic diagnosis,this patient received individualized treatment with PCSK9 inhibitor,a maximum tolerated dose of statin and ezetimibe,and successfully underwent coronary intervention.
作者
李云云
折剑青
罗玲
王燕妮
霍建华
任洁
LI Yunyun;ZHE Jianqing;LUO Ling;WANG Yanni;HUO Jianhua;REN Jie(Department of Cardiology,First Affliated Hospital,School of Medicine of Xi’an Jiao Tong University,Xi'an,710061,China;Department of Cardiology,Xi′an XD Group Hospital)
出处
《临床心血管病杂志》
CAS
北大核心
2022年第6期513-516,共4页
Journal of Clinical Cardiology