罕见病流行现状——一个极弱势人口的健康危机

Prevalence of Rare Diseases: The Health Crisis for an Extremely Vulnerable Population

罕见病是人类整体健康福祉的一大危害,是关乎社会、经济和人权的重大问题。据估测,全球约有4亿人受到罕见病的影响,中国至少有1680万人罹患罕见病。对全球罕见病的流行病学研究进行梳理,并选取血友病、肌萎缩侧索硬化症、多发性硬化症及成骨不全症四种典型罕见病,对其目前国内外的流行现状、分布特点等研究进展进行综述,同时进一步分析我国罕见病患者所面临的人口健康危机和社会隔离危机,全面了解我国罕见病患者群体的生存现状和治疗困境。研究总结出罕见病具有疾病种类多、患者群体庞大、病情严重、难诊断、难治疗等多个特点。我国多数罕见病患病率较低,但患者人数众多,远超其他国家,将严重影响人口健康,为社会带来沉重负担。然而目前罕见病相关政策及研究尚未受到国家重视,起步较晚,建议通过官方立法、提高诊断能力、保障用药、普及相关知识和加强预防等策略缓解这一健康危机,推进健康中国建设。

Rare diseases are one of the major hazards to the overall human health. And it is a major issue concerning social, economic and human rights. It is estimated that 400 million people worldwide are affected by rare diseases, and at least 16.8 million people in China suffering from rare diseases. In this paper, we reviewed epidemiology studies of global rare diseases, and selected four typical rare diseases hemophilia, amyotrophic lateral sclerosis, multiple sclerosis andosteogenesis imperfecta, to review the epidemic status, distribution characteristics and research progress at home and abroad, and further analyze the population health crisis and social isolation crisis faced by rare disease patients community in our country to fully understand the current situation and treatment difficulty of the rare patients. The study summarizes the characteristics of rare diseases including variety of disease types, large patient population, serious conditions, difficult diagnosis and intractable conditions, etc. Although the prevalence rates of most of the rare diseases in China are not high, the large number of patients, which far exceeds other countries, will seriously affect population health and bring a heavy burden to the society. However, at present, relevant policies and research on rare diseases have not received adequate attention from Chinese government. Promoting official legislation, improving diagnostic capabilities, ensuring treatment and drug use, popularization of rare disease information and strengthening the preventive measures are needed to ease rare disease health crisis and promote the development of Healthy China.