家族性高胆固醇血症合并极高危ASCVD 1例

A case of familial hypercholesterolemia with very high-risk ASCVD

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.