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

Shribman, S; Marjot, T; Sharif, A; Vimalesvaran, S; Ala, A; Alexander, G; Dhawan, A; ... Bandmann, O; + view all (2022) Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. The Lancet Gastroenterology and Hepatology , 7 (6) pp. 560-575. 10.1016/S2468-1253(22)00004-8. Green open access

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Abstract

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.

Type: Article
Title: Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/S2468-1253(22)00004-8
Publisher version: https://doi.org/10.1016/S2468-1253(22)00004-8
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: Copper, Hepatolenticular Degeneration, Humans
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inst for Liver and Digestive Hlth
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
URI: https://discovery.ucl.ac.uk/id/eprint/10150971
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