1Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.
2Oxford Liver Unit, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
3Liver Unit, Birmingham Women and Children's Hospital, Birmingham, UK.
4Paediatric Liver, GI and Nutrition Centre and Mowat Labs, King's College Hospital, Denmark Hill, London, UK.
5Department of Gastroenterology and Hepatology, Royal Surrey NHS Foundation Trust, Guildford; Institute of Liver Studies, King's College Hospital, London, UK.
6University College London Institute of Liver and Digestive Health, London, UK.
7Laboratory Medicine, Northern General Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
8Sheffield Children's NHS Foundation Trust, Sheffield, UK.
9Wilson's Disease Support Group UK, Cambridge, UK.
10Cambridge Liver Unit, Addenbrooke's Hospital, Cambridge, UK.
11Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, UK. Electronic address: email@example.com.
Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, ophthalmological, haematological, renal, and rheumatological manifestations. Making a diagnosis can be challenging given that no single test can confirm or exclude the disease, and diagnostic delays are common. Treatment protocols vary and adverse effects, including paradoxical neurological worsening, can occur. In this Review, we provide a practical guide to the diagnosis of Wilson's disease. We include recommendations on indications for testing, how to interpret results, and when additional investigations are required. We also cover treatment initiation, ideally under the guidance of a specialist centre for Wilson's disease, and the principles behind long-term management. This guidance was developed by a multidisciplinary group of Wilson's disease experts formed through the British Association for the Study of the Liver. The guidance has been endorsed by the British Society of Gastroenterology and approved by the Association of British Neurologists.