Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Cancer Control and Population Health, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea.
J Korean Med Sci. 2024 Apr 1;39(12):e115. doi: 10.3346/jkms.2024.39.e115.
Wilson's disease (WD) is an autosomal recessive disorder in which copper (Cu) accumulates in organs, particularly in the liver and central nervous system. This study aimed to investigate the prevalence, incidence, and treatment patterns of WD patients in Korea.
National Health Insurance System (NHIS) claims data from 2010 to 2020 were analyzed. patients with WD as a primary or additional diagnosis at least once were identified using the International Classification of Diseases (ICD)-10 disease code E83.0 and a record for a registration program for rare intractable diseases in Korea.
The average age- and sex-adjusted prevalence and incidence of WD between 2010 and 2020 were 3.06/100,000 and 0.11/100,000, respectively. The mean age of the patients with newly diagnosed WD was 21.0 ± 15.9 years. Among the 622 WD incident cases during the study period, 19.3% of the patients had liver cirrhosis and 9.2% had received liver transplantation. Psychological and neurological diseases were present in 40.7% and 48.1% of the patients, respectively. Regarding the diagnosis of WD, liver biopsy was performed in only 51.6% of new cases. D-penicillamine, trientine, or zinc were prescribed in 81.5% of the incident cases, and the treatment uptake rates decreased with increasing age.
The prevalence of WD in Korea is 3.06/100,000 and approximately 1,800 patients use medical services annually. A significant proportion of patients are diagnosed at the cirrhotic stage and not treated with Cu-chelating therapeutics, suggesting the need for early diagnosis and adequate treatment to improve prognosis.
威尔逊病（WD）是一种常染色体隐性遗传病，铜（Cu）在体内蓄积，尤其在肝脏和中枢神经系统。本研究旨在调查韩国 WD 患者的患病率、发病率和治疗模式。
利用 2010 年至 2020 年国家健康保险系统（NHIS）的理赔数据，采用国际疾病分类（ICD）第 10 版疾病代码 E83.0 和韩国罕见疑难病登记项目，确定至少有一次原发性或附加性 WD 诊断的患者。
2010 年至 2020 年，WD 的年龄和性别调整后患病率和发病率分别为 3.06/100,000 和 0.11/100,000。新诊断 WD 患者的平均年龄为 21.0±15.9 岁。在研究期间的 622 例 WD 新发病例中，19.3%的患者患有肝硬化，9.2%的患者接受了肝移植。40.7%和 48.1%的患者分别患有心理和神经疾病。关于 WD 的诊断，只有 51.6%的新发病例进行了肝活检。81.5%的新发病例开了 D-青霉胺、曲恩汀或锌，且治疗吸收率随年龄的增加而降低。
韩国 WD 的患病率为 3.06/100,000，每年约有 1800 名患者接受医疗服务。相当一部分患者在肝硬化阶段才被诊断出来，且未接受 Cu 螯合剂治疗，这表明需要早期诊断和充分治疗以改善预后。
