Wijayasiri Pramudi, Hayre Jatinder, Nicholson Edward S, Kaye Philip, Wilkes Emilie A, Evans Jonathan, Aithal Guruprasad P, Jones Gabriela, Pearce Fiona, Aravinthan Aloysious D
NIHR Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust and University of Nottingham, UK.
Nottingham Digestive Diseases Centre, Translational Medical Sciences, School of Medicine, University of Nottingham, UK.
JHEP Rep. 2021 Jul 7;3(5):100329. doi: 10.1016/j.jhepr.2021.100329. eCollection 2021 Oct.
BACKGROUND & AIMS: The clinical prevalence of Wilson's disease (WD) in the UK remains unknown. The estimated genetic prevalence in the UK, 142/million, is higher than the clinical prevalence (15/million) reported in other European studies. The aim of this study was to estimate the clinical prevalence of WD utilising readily available laboratory and clinical data.
Patients with WD who attended Nottingham University Hospital NHS Trust (NUH) between 2011 and 2018 were identified using multiple sources of case ascertainment: serum ceruloplasmin, 24-hour urinary copper, 'Wilson' in liver biopsy report, hospital prescription for penicillamine/trientine/zinc and admission coded with ICD-10 Code E83.0 (disorder of copper metabolism). Potential cases were identified using the Leipzig score, diagnosis was confirmed in hospital records and the point prevalence was calculated using the Office for National Statistics mid-2017 population estimates.
A total of 1,794 patients were identified from ≥1 source; 19 patients had WD, of whom 11 were from within the study catchment area and alive at the time of point prevalence estimation. Twenty-nine patients had a Leipzig score ≥2 without a diagnosis of WD, but none had WD on screening (n = 16). The overall prevalence of WD was 15.5/million; males 16.9/million and females 14.1/million.
This is the first UK population-based study to assess the clinical prevalence of WD. The reported clinical prevalence is lower than the UK genetic prevalence, but comparable to the clinical prevalence reported in Europe. The case ascertainment approach used in this study may be cost-effective, and similar practises could be adopted nationally.
Our study estimates the clinical prevalence of Wilson's disease, a rare genetic disorder of copper metabolism, in the UK. The estimated clinical prevalence is this study is markedly lower than the estimated UK genetic prevalence.
威尔逊病（WD）在英国的临床患病率尚不清楚。英国估计的基因患病率为142/百万，高于其他欧洲研究报告的临床患病率（15/百万）。本研究的目的是利用现有的实验室和临床数据估算WD的临床患病率。
通过多种病例确诊来源确定2011年至2018年间在诺丁汉大学医院国民保健服务信托基金（NUH）就诊的WD患者：血清铜蓝蛋白、24小时尿铜、肝活检报告中的“威尔逊”、青霉胺/曲恩汀/锌的医院处方以及国际疾病分类第十版代码E83.0（铜代谢障碍）编码的住院记录。使用莱比锡评分法确定潜在病例，通过医院记录确认诊断，并使用国家统计局2017年年中人口估计数计算时点患病率。
从≥1个来源共识别出1794例患者；19例患有WD，其中11例来自研究覆盖区域且在时点患病率估算时存活。29例患者莱比锡评分≥2但未诊断为WD，但筛查时均未发现WD（n = 16）。WD的总体患病率为15.5/百万；男性为16.9/百万，女性为14.1/百万。
这是英国第一项基于人群评估WD临床患病率的研究。报告的临床患病率低于英国的基因患病率，但与欧洲报告的临床患病率相当。本研究中使用的病例确诊方法可能具有成本效益，全国可采用类似做法。
我们的研究估算了英国威尔逊病（一种罕见的铜代谢遗传疾病）的临床患病率。本研究中估算的临床患病率明显低于英国估计的基因患病率。
