Clinical practice guidelines in Wilson disease

Chiara Saroli Palumbo, Michael L. Schilsky


Three guidelines in Wilson disease (WD) have been issued to date: by the American Association for the Study of Liver Diseases (AASLD) in 2003 with revision in 2008, by the European Association for the Study of the Liver (EASL) in 2012, and most recently by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) in 2018. The following review aims to compare and contrast the approach to diagnosis and management of WD outlined in each guidance. Diagnostic criteria for WD are variable, with the AASLD proposing a clinical/biochemical algorithmic approach, while EASL and ESPGHAN favor use of the Leipzig score. Screening of first-degree relatives differs in modality: clinical and genetic testing in AASLD and ESPGHAN, versus genetic testing alone in EASL. There is general consensus regarding treatment of WD, though ESPGHAN favors zinc over chelators in maintenance phase and for asymptomatic patients. Liver transplantation is indicated in cases of acute liver failure (ALF) due to WD, but not primarily for neuropsychiatric disease in all guidelines. EASL and ESPGHAN advocate for use of the revised King’s score to guide transplant listing. There are limited recommendations on special circumstances including pregnancy, surgery, and malignancy risk in WD. Though current recommendations address the management of liver disease due to WD, future guidelines may include a more detailed discussion of neurological and psychiatric manifestations of WD.