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摘要
家族性高胆固醇血症(FH)是一种常染色体显性遗传性疾病,伴有严重的脂质代谢紊乱。主要表现为血浆总胆固醇(TC)和低密度脂蛋白胆固醇(LDL-C)水平升高、黄色瘤、角膜弓和早发性冠心病。FH的患病率很高,而且危险且临床诊断不足。FH的临床治疗包括药物治疗和非药物治疗,其中非药物治疗主要包括治疗性生活方式改变和饮食治疗、LDL单采、肝移植和基因治疗。近年来,许多新药被开发出来以更有效地治疗FH。此外,非药物治疗技术的不断成熟也为FH的治疗带来了更多希望。本文分析FH的发病机制及临床治疗进展。此外,还对已上市的FH治疗药物的作用机制和构效关系进行了综述。总之,本文对FH治疗药物的研发具有一定的参考价值。
关键词: 家族性高胆固醇血症,药物治疗,治疗性生活方式改变,饮食治疗,低密度脂蛋白单采,肝移植,基因治疗。
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