Graduate School of Public Health, Yonsei University, Seoul, Republic of Korea.
The Institute for Occupational Health, Yonsei University College of Medicine, Seoul, Republic of Korea.
Orphanet J Rare Dis. 2019 Feb 18;14(1):49. doi: 10.1186/s13023-019-1032-6.
The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumulative incidence of rare diseases and the trends in annual cumulative incidence from 2011 to 2015 in Korea by using nationwide administrative data from the Korean National Health Insurance Service (NHIS) database for patients registered with the co-payment assistance policy for rare and incurable diseases. Annual cumulative incidence per 10,000,000 was calculated as the total number of newly enrolled patients with the Korean Standard Classification of Diseases (KCD)-7 code in the register, divided by the number of residents with health insurance coverage during each year. We employed simple linear regression analysis to evaluate the trends in annual cumulative incidence/10,000,000 population per year for each rare disease.
Overall, national support was provided for patients with 415 KCD codes listed among the targeted rare diseases. The total number of newly enrolled patients with rare diseases was 53,831 in 2011, 52,658 in 2012, 52,955 in 2013, 71,530 in 2014, and 70,559 in 2015. The number of rare diseases with an average annual cumulative incidence of 100/10,000,000 and above was 22 (5.30%), while there were 227 (54.70%) and 148 (35.66%) with an average cumulative incidence between 1/10,000,000 and 100/10,000,000 and less than 1/10,000,000, respectively. The trends in the annual cumulative incidence for 43 rare diseases were statistically significant (p-value < 0.05). The rare diseases for which the incremental trend per year was statistically significant were sarcoidosis (D86, D86.0, D86.1, D86.2, D86.3, D86.8, D86.9), Parkinson's disease (G20), Guillain-Barré syndrome (G61.0), primary biliary cirrhosis (K74.3) and Sjogren's syndrome (M35.0).
The number of rare diseases showing an increasing trend in annual cumulative incidence was higher than the number of diseases showing a decreasing trend in annual cumulative incidence. Given that the definition and diagnosis vary based on country and that there is difficulty in identifying valid cases, further detection strategies are needed to establish the incidence of each rare disease considering the importance of establishing a health policy based on the actual incidence of the targeted diseases.
韩国罕见病给社会和患者家庭带来的负担不断增加。然而，由于罕见病的发病率较低，因此缺乏针对这些病例的资源和信息，且对这些患者的管理资金不足。我们利用韩国国民健康保险服务（NHIS）数据库中登记的罕见和不治之症共同支付援助政策患者的全国性行政数据，调查了 2011 年至 2015 年韩国罕见病的平均年累积发病率和年度累积发病率趋势。每 1000 万人口的年累积发病率计算为登记册中按韩国疾病分类标准（KCD）-7 码新登记的患者总数除以每年参加健康保险的居民人数。我们采用简单线性回归分析评估每年每 1000 万人口罕见病的年度累积发病率趋势。
总体而言，全国为列入目标罕见病的 415 个 KCD 代码的患者提供了支持。2011 年新登记的罕见病患者为 53831 人，2012 年为 52658 人，2013 年为 52955 人，2014 年为 71530 人，2015 年为 70559 人。平均每年累积发病率为 100/1000 万及以上的罕见病有 22 种（5.30%），累积发病率为 1/1000 万至 100/1000 万和小于 1/1000 万的罕见病分别有 227 种（54.70%）和 148 种（35.66%）。43 种罕见病的年度累积发病率趋势具有统计学意义（p 值<0.05）。每年递增趋势具有统计学意义的罕见病包括结节病（D86、D86.0、D86.1、D86.2、D86.3、D86.8、D86.9）、帕金森病（G20）、格林-巴利综合征（G61.0）、原发性胆汁性肝硬化（K74.3）和干燥综合征（M35.0）。
年度累积发病率呈上升趋势的罕见病数量高于呈下降趋势的罕见病数量。鉴于各国对罕见病的定义和诊断存在差异，且难以确定有效病例，需要进一步的检测策略，根据目标疾病的实际发病率，为每种罕见病的发病率建立一套方案。
