A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

Abstract

This is the complete version of the American Association for the Study of Liver Diseases (AASLD) 2022 Guidance on Wilson disease (WD). It provides a contemporary approach to diagnosis and management of WD. Guidance documents, developed by a panel of experts, are formulated as recommendations to help clinicians implement the most current strategies for diagnosis and management. This Guidance was developed with the support and oversight of the AASLD Practice Guidelines Committee. The AASLD Practice Guidelines Committee chose to commission a guidance, rather than a guideline, because of the paucity of randomized controlled trials on this topic. AASLD Guidelines are supported by systematic reviews of the literature, formal ratings of evidence quality and strength of recommendations, and, if appropriate, meta-analysis of results using the Grading of Recommendations Assessment Development and Evaluation system. In contrast, this narrative review and its guidance statements are based on (1) formal review and analysis of the recently published international literature on WD, (2) guideline policies of the AASLD, and (3) the authors' experience. This practice Guidance is intended for use by physicians and other health professionals. As clinically appropriate, guidance statements should be tailored to the needs of individual patients. Specific guidance statements are evidence based whenever possible. Where such evidence is unavailable or inconsistent, guidance statements are based on expert consensus opinion. An executive summary providing a convenient overview is available (

Wilson disease in pregnancy: A case series

“…The role of the drug is to promote excretion of copper (copperchelating agents such as D-penicillamine and trichostatin) and reduce absorption of copper (such as zinc). [4,10,11] There are relatively few pregnant women with WD, and the side effects of drugs on mothers and children remain to be tracked. European association for the study of the liver and American association for the study of liver diseases guidelines recommend that treatment doses of chelators (including D-penicillamine and trichostatin) should be reduced during pregnancy and that clinical symptoms and liver function, as well as blood copper and urinary ketone, should be regularly monitored during pregnancy, and while postdelivery doses should be increased to prepregnancy levels.…”

“…European association for the study of the liver and American association for the study of liver diseases guidelines recommend that treatment doses of chelators (including D-penicillamine and trichostatin) should be reduced during pregnancy and that clinical symptoms and liver function, as well as blood copper and urinary ketone, should be regularly monitored during pregnancy, and while postdelivery doses should be increased to prepregnancy levels. [10][11][12] In our report, the second and third pregnant women had poor compliance during pregnancy and did not take drugs to continue copper removal treatment. In case 2, the disease deteriorated during pregnancy, and the liver cirrhosis progressed from compensatory period to decompensatory period, eventually leading to adverse pregnancy outcomes.…”

Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders

“…The clinical manifestations regarding liver involvement range from incidental findings of liver function abnormalities to acute hepatic failure. Symptoms at any age are frequently nonspecific[ 41 ]. Early clinical symptoms in WD patients are diverse and atypical, and biochemical tests have false positives and false negatives, making early diagnosis more difficult.…”

“…Melatonin, as an antioxidant, has been shown to strongly ameliorate liver and brain damage from oxidative stress[ 86 ]. In fact, treatment failure poses another challenge in the treatment of WD, which can occur with any WD medication early during treatment initiation or later while on maintenance therapy[ 41 ]. The main difficulty of WD treatment is to address Wilson's disease crises, including hemolytic crisis and acute liver failure.…”

Phenotypic and Genetic Characterization of children with Wilson Disease from Northeast China

“…WD can develop at any age, but it is common in 5-35 years old 4 .WD is increasingly diagnosed in children who are younger than 5 years old, and clinical ndings may be nonspeci c in children who are younger than 2 years old 5 . Most children showed dysfunction of liver ranging from incidental nding of increased serum transaminases in otherwise asymptomatic, acute hepatitis, hepatomegaly, to acute liver failure (ALF) or cirrhosis 6 .…”