纯合子型家族性高胆固醇血症疾病负担及临床未满足需求的研究

The Disease Burdens of Homozygous Familial Hypercholesterolaemia and the Unmet Demands in Clinical Practice

目的:通过总结纯合子型家族性高胆固醇血症(HoFH)患者的临床特征、疾病负担和现有治疗方案,为医疗卫生决策者、医务工作者和患者充分认识HoFH疾病的疾病负担及未满足需求提供参考。方法:利用数据库检索建库到2018年10月有关HoFH研究的文献和诊疗指南,对文献信息进行综述。结果:HoFH患者血清低密度脂蛋白胆固醇(LDL-C)水平异常升高,易早发动脉粥样硬化性心血管事件(如冠心病、卒中等),导致HoFH患者死亡率和残疾率增加,并且导致患者生命质量降低,给患者和社会带来沉重的经济负担和社会负担。现有常规药物治疗降低LDL-C水平有限,不能达到指南推荐的降脂治疗目标。结论:HoFH患者疾病负担沉重,临床急需更有效的药物降低HoFH患者LDL-C水平,从而减少HoFH患者发生心血管事件的风险。

Objective:To summarize the clinical characteristics,disease burdens,and the current treatment of homozygous familial hypercholesterolaemia (HoFH),and to provide references for health care policy makers, clinicians,and patients in their decision-making pertaining to HoFH from both the clinical and health economics aspects.Methods:Literature and clinical guidelines about HoFH were searched and summarized up to October, 2018.Results:HoFH is a life-threatening disease characterized by extremely high elevation of LDL cholesterol levels,and marked premature and progressive atherosclerotic cardiovascular disease (including coronary heart disease,stroke,etc.).HoFH patients incur a high risk of mortality and disability and experience poor quality of life, leading to high economic and societal burdens.The current treatments only have limited effectiveness in decreasing LDL-C in HoFH patients and mostly fail to achieve the target of lipid-lowering therapy.Conclusions:HoFH patients have high disease burdens and unmet medical needs.More effective therapies are critically needed to decrease LDL-C and reduce the risk of cardiovascular events in HoFH patients.