Pramudi Wijayasiri12, Jatinder Hayre2, Edward S Nicholson3, Philip Kaye4, Emilie A Wilkes1, Jonathan Evans5, Guruprasad P Aithal12, Gabriela Jones6, Fiona Pearce17, Aloysious D Aravinthan12
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.
Department of Pharmacy, Nottingham University Hospitals NHS Trust, UK.
Department of Pathology, Nottingham University Hospitals NHS Trust, UK.
Department of Neurology, Nottingham University Hospitals NHS Trust, UK.
Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, UK.
Population and Lifespan Sciences, School of Medicine, University of Nottingham, UK.
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.
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 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.
Conclusion: 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.
Lay summary: 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.