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guidelines·gastroenterology, neurology, pediatrics, geriatrics, internal medicine·PMC10187853

Wilson disease: a summary of the updated AASLD Practice Guidance

Hepatology Communications · 3 authors, 3 centres

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TL;DR

This expert review summarizes the updated AASLD Practice Guidance for diagnosing and managing Wilson disease, a genetic copper metabolism disorder affecting all ages. It highlights the limitations of current standard-of-care treatments and discusses novel therapies under investigation.

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This expert perspective review provides an overview of Wilson disease (WD), summarizing the updated American Association for the Study of Liver Diseases (AASLD) Practice Guidance. The authors describe WD as a genetic disorder of copper metabolism with autosomal recessive inheritance, leading to copper accumulation and potential manifestations in the liver and central nervous system. The review discusses diagnostic challenges and the standard-of-care treatments, noting their limitations in efficacy, safety concerns, dosing complexity, and adherence issues. It mentions novel pharmacological (e.g., ALXN1840) and gene therapies (e.g., VTX-801, UX701) under investigation. The implications are that updated guidance and novel therapies aim to improve management, but current treatments remain limited.

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guidelines

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gastroenterology

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ORIGINAL PAPER

PMC10187853

Wilson disease: a summary of the updated AASLD Practice Guidance

Hepatology Communications

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ABSTRACT

Abstract Wilson disease (WD) is caused by autosomal variants affecting the ATP7B gene on chromosome 13, resulting in alterations in physiological copper homeostasis and copper accumulation. Excess copper clinically manifests in many organs, most often in the central nervous system and liver, ultimately causing cirrhosis and death. Often considered a pediatric or young adult disease, WD actually affects patients of all ages, and aging patients need to be regularly managed with long-term follow-up. Despite over a century of advances in diagnosis and treatment, WD is still associated with diagnostic challenges and considerable disability and death, in part due to delays in diagnosis and limitations in treatment. Standard-of-care treatments are considered generally effective when the diagnosis is timely but are also limited by efficacy, safety concerns, multiple daily dosing, and adherence. This expert perspective review seeks to facilitate improvements in the awareness, understanding, diagnosis, and management of WD. The objectives are to provide a full overview of WD and streamline updated diagnosis and treatment guidance, as recently published by the American Association for the Study of Liver Diseases, in a practical way for clinical use.

CITATION EXPORT

Naim Alkhouri, Regino P Gonzalez-Peralta, Valentina Medici. Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatology Communications. (2023). https://doi.org/10.1097/HC9.0000000000000150

AUTHORS

3 · 3 CENTRES

Naim Alkhouri, Regino P Gonzalez-Peralta, Valentina Medici

1Arizona Liver Health, Phoenix, Arizona, USA
2AdventHealth for Children, AdventHealth Transplant Institute, Orlando, Florida, USA
3Division of Gastroenterology and Hepatology, University of California Davis, Sacramento, California, USA