摘要
纯合子型家族性高胆固醇血症(homozygous familial hypercholesterolemia, HoFH)是一种代谢系统遗传性疾病,患病人数极少,是一种罕见病。本研究通过系统评价,从基础信息、临床服务、药物保障等三方面梳理和比较国内外HoFH患者的保障情况。本研究发现,发达国家在HoFH的指南开发、新药研发和保障等方面已有较多经验,HoFH保障体系相对健全;而中国有关HoFH的保障措施虽然正加快推进,包括开展筛查项目、加速药物上市、制定诊疗指南等,但总的来说,保障体系尚不健全。因此,亟需借鉴国外经验并结合实际情况,建立和完善HoFH保障体系。
Homozygous Familial Hypercholesterolemia(HoFH) is an extremely rare hereditary disease of metabolic system, with few patients. This study sorts out and compares the security situation of patients with HoFH at home and abroad, in terms of basic information, clinical services and pharmaceutical support, etc, by a systematic review. It is found in this study that the developed countries have more experience in developing HoFH guidelines, new drug research and development as well as security, etc, and their HoFH safeguard systems are also relatively sound. Although China is accelerating the pace of safeguard measures, including conducting screening programs, accelerating market access of drugs and formulating guidelines for diagnosis and treatment, etc,generally, the HoFH safeguard system is still far from sound. Therefore, it is urgent for China to learn from foreign experience and combine with the actual situation to establish and perfect the HoFH security system.
引文
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