Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry

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 th...

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Autores: Berenguer, Marina, García Villarreal, Luis, Olveira, Antonio, Mollina Pérez, Esther, Moreno Planas, José María, Romero Gutiérrez, Marta, Pinazo Bandera, José María, Masnou Ridaura, Helena, Iruzubieta, Paula, González Diéguez, María Luisa, Ampuero, Javier, Fernández Ramos, José Ramón, Muñoz, Carolina, Arencibia Almeida, Ana, Lorente, Sara, Delgado Blanco, Manuel, Burgos Santamaría, Diego, Pons Delgado, Mònica, Cachero, Alba, Hernández Guerra, Manuel, Gómez Camarero, Judith, Gil Rojas, Sergio, Lázaro Ríos, María, Carmona Soria, Isabel, Carrión, Gemma, Bono, Ariadna, Miralpeix, Anna, Alonso Castellano, Pablo, Mariño, Zoe, Registro Wilson-Aeeh
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/222286
Acceso en línea:https://hdl.handle.net/2445/222286
Access Level:acceso abierto
Palabra clave:Malalties del fetge
Marcadors bioquímics
Liver diseases
Biochemical markers
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spelling Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registryBerenguer, MarinaGarcía Villarreal, LuisOlveira, AntonioMollina Pérez, EstherMoreno Planas, José MaríaRomero Gutiérrez, MartaPinazo Bandera, José MaríaMasnou Ridaura, HelenaIruzubieta, PaulaGonzález Diéguez, María LuisaAmpuero, JavierFernández Ramos, José RamónMuñoz, CarolinaArencibia Almeida, AnaLorente, SaraDelgado Blanco, ManuelBurgos Santamaría, DiegoPons Delgado, MònicaCachero, AlbaHernández Guerra, ManuelGómez Camarero, JudithGil Rojas, SergioLázaro Ríos, MaríaCarmona Soria, IsabelCarrión, GemmaBono, AriadnaMiralpeix, AnnaAlonso Castellano, PabloMariño, ZoeRegistro Wilson-AeehMalalties del fetgeMarcadors bioquímicsLiver diseasesBiochemical markersBackground 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.Springer Science and Business Media LLC2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/222286Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1186/s13023-025-03821-1Orphanet Journal of Rare Diseases, 2025, vol. 20, num. 1https://doi.org/10.1186/s13023-025-03821-1cc by (c) Berenguer, Marina et al, 2025http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2222862026-05-27T06:46:51Z
dc.title.none.fl_str_mv Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
title Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
spellingShingle Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
Berenguer, Marina
Malalties del fetge
Marcadors bioquímics
Liver diseases
Biochemical markers
title_short Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
title_full Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
title_fullStr Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
title_full_unstemmed Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
title_sort Predictive value of liver enzymes in long-term prognosis of hepatic Wilson disease: results from the Wilson AEEH registry
dc.creator.none.fl_str_mv Berenguer, Marina
García Villarreal, Luis
Olveira, Antonio
Mollina Pérez, Esther
Moreno Planas, José María
Romero Gutiérrez, Marta
Pinazo Bandera, José María
Masnou Ridaura, Helena
Iruzubieta, Paula
González Diéguez, María Luisa
Ampuero, Javier
Fernández Ramos, José Ramón
Muñoz, Carolina
Arencibia Almeida, Ana
Lorente, Sara
Delgado Blanco, Manuel
Burgos Santamaría, Diego
Pons Delgado, Mònica
Cachero, Alba
Hernández Guerra, Manuel
Gómez Camarero, Judith
Gil Rojas, Sergio
Lázaro Ríos, María
Carmona Soria, Isabel
Carrión, Gemma
Bono, Ariadna
Miralpeix, Anna
Alonso Castellano, Pablo
Mariño, Zoe
Registro Wilson-Aeeh
author Berenguer, Marina
author_facet Berenguer, Marina
García Villarreal, Luis
Olveira, Antonio
Mollina Pérez, Esther
Moreno Planas, José María
Romero Gutiérrez, Marta
Pinazo Bandera, José María
Masnou Ridaura, Helena
Iruzubieta, Paula
González Diéguez, María Luisa
Ampuero, Javier
Fernández Ramos, José Ramón
Muñoz, Carolina
Arencibia Almeida, Ana
Lorente, Sara
Delgado Blanco, Manuel
Burgos Santamaría, Diego
Pons Delgado, Mònica
Cachero, Alba
Hernández Guerra, Manuel
Gómez Camarero, Judith
Gil Rojas, Sergio
Lázaro Ríos, María
Carmona Soria, Isabel
Carrión, Gemma
Bono, Ariadna
Miralpeix, Anna
Alonso Castellano, Pablo
Mariño, Zoe
Registro Wilson-Aeeh
author_role author
author2 García Villarreal, Luis
Olveira, Antonio
Mollina Pérez, Esther
Moreno Planas, José María
Romero Gutiérrez, Marta
Pinazo Bandera, José María
Masnou Ridaura, Helena
Iruzubieta, Paula
González Diéguez, María Luisa
Ampuero, Javier
Fernández Ramos, José Ramón
Muñoz, Carolina
Arencibia Almeida, Ana
Lorente, Sara
Delgado Blanco, Manuel
Burgos Santamaría, Diego
Pons Delgado, Mònica
Cachero, Alba
Hernández Guerra, Manuel
Gómez Camarero, Judith
Gil Rojas, Sergio
Lázaro Ríos, María
Carmona Soria, Isabel
Carrión, Gemma
Bono, Ariadna
Miralpeix, Anna
Alonso Castellano, Pablo
Mariño, Zoe
Registro Wilson-Aeeh
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malalties del fetge
Marcadors bioquímics
Liver diseases
Biochemical markers
topic Malalties del fetge
Marcadors bioquímics
Liver diseases
Biochemical markers
description 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.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/222286
url https://hdl.handle.net/2445/222286
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1186/s13023-025-03821-1
Orphanet Journal of Rare Diseases, 2025, vol. 20, num. 1
https://doi.org/10.1186/s13023-025-03821-1
dc.rights.none.fl_str_mv cc by (c) Berenguer, Marina et al, 2025
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Berenguer, Marina et al, 2025
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Science and Business Media LLC
publisher.none.fl_str_mv Springer Science and Business Media LLC
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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