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.

威尔逊病是一种常染色体隐性铜代谢障碍，具有肝脏、神经、精神、眼科、血液、肾脏和风湿病学表现。由于没有任何单一测试可以确认或排除该疾病，并且诊断延迟很常见，因此做出诊断可能具有挑战性。治疗方案各不相同，可能会发生不良反应，包括矛盾的神经功能恶化。在这篇综述中，我们为威尔逊氏病的诊断提供了实用指南。我们提供了有关测试适应症、如何解释结果以及何时需要进行额外调查的建议。我们还涵盖治疗开始（最好是在威尔逊病专家中心的指导下）以及长期管理背后的原则。该指南由英国肝脏研究协会组建的多学科威尔逊病专家小组制定。该指南已得到英国胃肠病学会的认可和英国神经病学家协会的批准。