Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.

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.
Competing Interests: Declaration of interests SS has received grants from the Guarantors of Brain via the Association of British Neurologists and Wilson's Disease Support Group UK. AA has received grants from Alexion Pharmaceuticals, Orphalan UK, and Univar Solutions, is on advisory boards for Alexion Pharmaceuticals, Orphalan UK, Ultragenyx, Univar Solutions and ViVet, is on the speakers bureau for Orphalan UK and Univar Solutions, and is a co-applicant on a patent for bis-choline tetrathiomolybdate. AD has received consulting fees and payments from Alexion Pharmaceuticals and Univar Solutions and is on the advisory boards for Univar Solutions, Alexion Pharmaceuticals, and Orphalan UK. DK has received consulting fees from Orphalan UK. TTW is president of the Association of British Neurologists. WG has received consulting fees for Jnana Therapeutics. OB has received a grant from the Wilson's Disease Support Group UK and is chair of the Movement Disorders Advisory Group at the Association of British Neurologists. All other authors declare no competing interests.
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