@article{10902/37416,
year = {2025},
url = {https://hdl.handle.net/10902/37416},
abstract = {Background and Aims: Monitoring Wilson disease (WD) is challenging due to its variable presentation and the absence of reliable biomarkers. This study aims to assess the predictive value of liver enzymes, particularly transaminases, on long-term outcomes in patients with hepatic WD using data from the Spanish Wilson Registry.
Patients and Methods: We analysed data from 162 WD patients with hepatic involvement and over one year of follow-up. Patients were classified as mild (no cirrhosis) or severe (with cirrhosis) at diagnosis. An "unstable pattern of transaminases" was defined as recurrent AST or ALT elevations. Unfavourable outcomes included new cirrhosis, elastography progression>2 Kpa, liver transplant, or liver-related deaths. Logistic regression models were used to evaluate the impact of various factors on disease outcome.
Results: Of 162 patients, 81.5% had mild disease at diagnosis. Most received chelators as first-line therapy, achieving an 81.4% one-year biochemical response. After a median follow-up of 17 years, 59% exhibited an unstable transaminase pattern, and 29% had an unfavourable outcome. Key factors associated with poor outcome included older age at diagnosis (OR=1.03), lack of early biochemical response (OR=0.19), advanced disease markers (platelet count, albumin), and an unstable transaminase pattern (OR=2.92). Transaminase levels did not predict outcomes based on initial disease severity. Even patients with mild disease at diagnosis and persistently normal transaminases could experience progression over time, underscoring the need for more thorough follow-up evaluations.
Conclusion: While transaminases are valuable for monitoring WD, they should be used alongside other biomarkers to better predict disease progression.},
publisher = {BioMed Central},
publisher = {Orphanet Journal of Rare Diseases, 2025, 20, 288},
title = {Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry},
author = {Berenguer, Marina and García-Villareal, Luis and Olveira, Antonio and Mollina Pérez, Esther and Moreno Planas, José María and Romero-Gutiérrez, Marta and Pinazo Bandera, José María and Masnou Ridarua, Helena and Iruzubieta Coz, Paula and González Diéguez, María Luisa and Ampuero, Javier and Fernández Ramos, José Ramón and Muñoz, Carolina and Arencibia Almeida, Ana and Lorente, Sara and Delgado Blanco, Manuel and Burgos Santanmaría, Diego and Pons Delgado, Mònica and Cachero, Alba and Hernández Guerra, Manuel},
}