Estimating the clinical prevalence of Wilson’s disease in the UK

Wijayasiri, Pramudi; Hayre, Jatinder; Nicholson, Edward S.; Kaye, Philip; Wilkes, Emilie A.; Evans, Jonathan; Aithal, Guruprasad P.; Jones, Gabriela; Pearce, Fiona; Aravinthan, Aloysious D.

Abstract

Background and Aim
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.

Method
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.

Results
A total of 1,794 patients were identified from ≥1 source; 19 patients had WD, of which 11 were from within the study catchment area and alive at the time of point prevalence estimation. Twentynine patients had 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.

Conclusion
This is the first UK population-based study of WD clinical prevalence. This is lower than the UK genetic prevalence, but comparable to European clinical prevalence. The case ascertainment approach used in this study may be a cost-effective, and similar practises could be adopted nationally.

Citation

Wijayasiri, P., Hayre, J., Nicholson, E. S., Kaye, P., Wilkes, E. A., Evans, J., …Aravinthan, A. D. (2021). Estimating the clinical prevalence of Wilson’s disease in the UK. JHEP Reports, 3(5), Article 100329. https://doi.org/10.1016/j.jhepr.2021.100329

• Journal Article Type: Article
• Acceptance Date: Jun 28, 2021
• Online Publication Date: Jul 7, 2021
• Publication Date: 2021-10
• Deposit Date: Jul 1, 2021
• Publicly Available Date: Jul 9, 2021
• Journal: JHEP Reports
• Electronic ISSN: 2589-5559
• Publisher: Elsevier
• Peer Reviewed: Peer Reviewed
• Volume: 3
• Issue: 5
• Article Number: 100329
• DOI: https://doi.org/10.1016/j.jhepr.2021.100329
• Public URL: https://nottingham-repository.worktribe.com/output/5746252
• Publisher URL: https://www.sciencedirect.com/science/article/pii/S2589555921001051