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. 2023 May 15;7(6):e0150.
doi: 10.1097/HC9.0000000000000150. eCollection 2023 Jun 1.

Wilson disease: a summary of the updated AASLD Practice Guidance

Naim Alkhouri  1 , Regino P Gonzalez-Peralta  2 , Valentina Medici  3
Affiliations

Wilson disease: a summary of the updated AASLD Practice Guidance

Naim Alkhouri et al. Hepatol Commun. .

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.

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Conflict of interest statement

Naim Alkhouri: advisory role in AbbVie/Allergan, Altimmune, Boehringer Ingelheim, Echosens, Fibronostics, Galecto, Gilead, Intercept, Madrigal, NorthSea, Novo Nordisk, Perspectum, Pfizer, and Zydus; research funding by 89Bio, Akero, AbbVie/Allergan, Altimmune, Better Therapeutics, Boehringer Ingelheim, Bristol-Myers Squibb, Corcept, DSM, Galectin, Genentech, Genfit, Gilead, Hepagene, Healio, Intercept, Inventiva, Ionis, Madrigal, Merck, NGM, Noom, NorthSea, Novo Nordisk, Perspectum, Pfizer, Poxel, Terns, Viking, and Zydus; and honoraria from AbbVie/Allergan, Alexion, Echosens, Eisai, Exelixis, Gilead, Intercept, Perspectum, Salix, Siemens, Sonic Incytes, and Theratechnologies. Regino P. Gonzalez-Peralta: advisory role in Mirum, Alexion. Consultant: Albireo, Mirum, and Sarepta; research funding from Vivet, Gilead, Abbvie, Mirum, and Wilson Disease Association; and other involvement includes being on the monitoring board of Albireo and Orphalan. Valentina Medici: advisory role in Alexion, Arbormed, and Orphalan, and research funding from Alexion (site PI), Arbormed (research grant), Vivet (site PI), and Orphalan (site Pi).

Figures

FIGURE 1
FIGURE 1
The clinical manifestations of WD impact on several organ systems.,– Abbreviation: WD, Wilson disease.
FIGURE 2
FIGURE 2
AASLD recommendations for the treatment of WD. *Maintenance doses are recommended. Abbreviations: AASLD, American Association for the Study of Liver Diseases; WD, Wilson disease.
See this image and copyright information in PMC

References

    1. Compston A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509. Brain. 2009;132:1997–2001. - PubMed
    1. Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–507. - PubMed
    1. Schilsky ML, Roberts EA, Bronstein JM, Dhawan A, Hamilton JP, Rivard AM, et al. . A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2022. In press. - PubMed
    1. https://rarediseases.org/rare-diseases/wilson-disease Wilson’s Disease. Accessed October 25, 2022.
    1. Chaudhry HS, Anilkumar AC. Wilson Disease. Treasure Island (FL): StatPearls Publishing; 2020. Accessed October 25, 2022. https://www.ncbi.nlm.nih.gov/books/NBK441990/ - PubMed