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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。Abstract: 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.
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Key words:
- familial hypercholesterolemia /
- atherosclerosis
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图 3 患者携带了FH LDLR基因的致病突变
Figure 3. The patient carries a pathogenic mutation in the LDLR gene of familial hypercholesterolemia
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