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Review
. 2024 Nov 5;32(2):78-94.
doi: 10.1159/000541208. eCollection 2025 Apr.

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective

Filipe Calinas  1   2 , Hélder Cardoso  3   4 , Sofia Carvalhana  5 , José Ferreira  6 , Cristina Gonçalves  7 , Marina Magalhães  8 , Helena Pessegueiro Miranda  9 , José Presa  10 , Carla Rolanda  11   12 , Arsénio Santos  13   14 , Rui M Santos  14
Affiliations
Review

Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective

Filipe Calinas et al. GE Port J Gastroenterol. .

Abstract
in English, Portuguese

Wilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs. WD can manifest as liver disease, a progressive neurological disorder, a psychiatric illness, or a combination of these. Other clinical manifestations can also occur. Diagnosis is challenging and typically requires a range of biochemical tests, imaging, genetic testing for ATP7B, and/or liver biopsy. WD is treatable with chelating agents, such as d-penicillamine and trientine, and/or zinc salts alongside with dietary copper restriction. Liver transplantation may be indicated in WD patients with severe hepatic disease, and cautiously considered in patients with neurological WD. Treatment success highly depends on patient adherence and treatment persistence. Therefore, effective interventions for improving patient adherence and close monitoring are key for preventing WD progression. In Portugal, there are no reference centers for WD, and patients are dispersed across numerous medical specialists. This review aimed to summarize the most recent and relevant information for the diagnosis, treatment, and monitoring of WD in Portugal, as well as possible interventions for stimulating adherence to treatment.

A doença de Wilson é uma doença genética do metabolismo do cobre, causada por mutações no gene ATP7B, que levam à acumulação tóxica de cobre em diversos órgãos. A doença de Wilson pode manifestar-se como doença hepática, perturbação neurológica progressiva, doença psiquiátrica ou como uma combinação destas patologias. Outras manifestações clínicas também podem ocorrer. O diagnóstico é complexo e normalmente requer a combinação de análises bioquímicas, imagiologia, testes genéticos para o gene ATP7B e/ou biópsia hepática. A doença de Wilson é tratável com agentes quelantes, como a d-penicilamina e a trientina, e/ou sais de zinco, em conjunto com uma dieta com baixo teor de cobre. O transplante de fígado pode ser indicado em doentes com doença hepática grave, e deve ser cuidadosamente considerado em doentes com manifestações predominantemente neurológicas. O sucesso do tratamento é altamente dependente da adesão do doente e da persistência no tratamento. Portanto, intervenções eficazes para melhorar a adesão do doente ao tratamento, bem como a monitorização rigorosa, são cruciais para prevenir a progressão da doença de Wilson. Em Portugal não existem centros de referência para a doença de Wilson e os doentes encontram-se dispersos por numerosos especialistas médicos. Este artigo de revisão pretende reunir informação recente e relevante para o diagnóstico, tratamento e monitorização da doença de Wilson em Portugal, assim como possíveis intervenções para estimular a adesão ao tratamento.

Keywords: Adherence; Diagnosis; Monitoring; Treatment; Wilson disease.

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Conflict of interest statement

All authors declared that Orphalan provided financial support for the medical writing of this manuscript. Filipe Calinas received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from AbbVie, Alfasigma Portugal, Gilead, Orphalan, and Merck Sharp and Dohme; received payment for expert testimony from Gilead, Merck Sharp and Dohme, and Roche; received support for attending meetings and/or travel from AbbVie, Gilead, Orphalan, and Univar, and participated on a Data Safety Monitoring Board or Advisory Board sponsored by Gilead, Intercept, Roche, AbbVie. Hélder Cardoso received consulting fees from Orphalan to participate in an Advisory Board. José Ferreira received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events and support for attending meetings and/or travel from Orphalan. Cristina Gonçalves received support for attending meetings and/or travel from Orphalan and participated in an Advisory Board sponsored by Orphalan. Marina Magalhães received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Orphalan; participated in an Advisory Board sponsored by Orphalan; and received support for attending meetings and/or travel from Orphalan, Ipsen Portugal – Produtos Farmacêuticos, SA, and Merz Therapeutics Iberia SLU. José Presa received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Roche and support for attending meetings and/or travel from AbbVie; participated on a Data Safety Monitoring Board or Advisory Board sponsored by Gilead, Roche, Eisai, AstraZeneca, and Advanz Pharma; and had a leadership or fiduciary role in Associação Portuguesa para o Estudo do Fígado (APEF). Carla Rolanda received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events from Orphalan and support for attending meeting and/or travel from Gilead. Arsénio Santos received consulting fees from Orphalan and Advanz Pharma and received payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing, or educational events; support for attending meeting and/or travel from Orphalan; participated in an Advisory Board sponsored by Advanz Pharma; and is the president of Associação Portuguesa para o Estudo do Fígado (APEF). Sofia Carvalhana, Helena Pessegueiro Miranda, and Rui M. Santos declared no other conflict of interests.

Figures

Fig. 1.
Fig. 1.
Algorithm for diagnosing WD in patients with liver disease [7, 58]. CPN, ceruloplasmin; Cu, copper; KF, Kayser-Fleischer; WD, Wilson disease.
Fig. 2.
Fig. 2.
Algorithm for diagnosing WD in patients with neuropsychiatric manifestations [7, 58]. CPN, ceruloplasmin; Cu, copper; KF, Kayser-Fleischer; WD, Wilson disease.
See this image and copyright information in PMC

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