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Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study

Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patient...

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Autores principales: Mariño, Zoe, Berenguer, Marina, Peña-Quintana, Luis, Olveira, Antonio, Miralpeix, Anna, Sastre, Isabel, Reyes-Domínguez, Ana, Castillo, Pilar, García-Solà, Clàudia, Bono, Ariadna, Romero, Miriam, Pérez-Sádaba, Francisco Javier, Aceituno, Susana, Anguera, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381913/
https://www.ncbi.nlm.nih.gov/pubmed/37510937
http://dx.doi.org/10.3390/jcm12144823
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author Mariño, Zoe
Berenguer, Marina
Peña-Quintana, Luis
Olveira, Antonio
Miralpeix, Anna
Sastre, Isabel
Reyes-Domínguez, Ana
Castillo, Pilar
García-Solà, Clàudia
Bono, Ariadna
Romero, Miriam
Pérez-Sádaba, Francisco Javier
Aceituno, Susana
Anguera, Anna
author_facet Mariño, Zoe
Berenguer, Marina
Peña-Quintana, Luis
Olveira, Antonio
Miralpeix, Anna
Sastre, Isabel
Reyes-Domínguez, Ana
Castillo, Pilar
García-Solà, Clàudia
Bono, Ariadna
Romero, Miriam
Pérez-Sádaba, Francisco Javier
Aceituno, Susana
Anguera, Anna
author_sort Mariño, Zoe
collection PubMed
description Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patients with WD and evaluated disease impact on several domains of patients’ lives, treatment adherence, drug preference and satisfaction, and healthcare resource utilisation in a cross-sectional, retrospective, multicentric, observational study. A total of 102 patients were included: 81.4% presented isolated liver involvement (group H) and 18.6% presented neurological or mixed involvement (group EH). Up to 30% of patients reported a deteriorated emotional status with anxiety and depression, which was greater in the EH subgroup; the use of neuropsychiatric drugs was high. Over 70% of the patients were satisfied with their current treatment but complained about taking too many pills, stating they would consider switching to another more patient-friendly treatment if available. The Simplified Medication Adherence Questionnaire revealed only 22.5% of patients were fully adherent to therapy, suggesting that alternative therapies are needed. This real-world study, even though is highly enriched with hepatic patients and mild disease, shows that WD impacts patients’ HRQoL, especially in the emotional domain.
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spelling pubmed-103819132023-07-29 Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study Mariño, Zoe Berenguer, Marina Peña-Quintana, Luis Olveira, Antonio Miralpeix, Anna Sastre, Isabel Reyes-Domínguez, Ana Castillo, Pilar García-Solà, Clàudia Bono, Ariadna Romero, Miriam Pérez-Sádaba, Francisco Javier Aceituno, Susana Anguera, Anna J Clin Med Article Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patients with WD and evaluated disease impact on several domains of patients’ lives, treatment adherence, drug preference and satisfaction, and healthcare resource utilisation in a cross-sectional, retrospective, multicentric, observational study. A total of 102 patients were included: 81.4% presented isolated liver involvement (group H) and 18.6% presented neurological or mixed involvement (group EH). Up to 30% of patients reported a deteriorated emotional status with anxiety and depression, which was greater in the EH subgroup; the use of neuropsychiatric drugs was high. Over 70% of the patients were satisfied with their current treatment but complained about taking too many pills, stating they would consider switching to another more patient-friendly treatment if available. The Simplified Medication Adherence Questionnaire revealed only 22.5% of patients were fully adherent to therapy, suggesting that alternative therapies are needed. This real-world study, even though is highly enriched with hepatic patients and mild disease, shows that WD impacts patients’ HRQoL, especially in the emotional domain. MDPI 2023-07-21 /pmc/articles/PMC10381913/ /pubmed/37510937 http://dx.doi.org/10.3390/jcm12144823 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Mariño, Zoe
Berenguer, Marina
Peña-Quintana, Luis
Olveira, Antonio
Miralpeix, Anna
Sastre, Isabel
Reyes-Domínguez, Ana
Castillo, Pilar
García-Solà, Clàudia
Bono, Ariadna
Romero, Miriam
Pérez-Sádaba, Francisco Javier
Aceituno, Susana
Anguera, Anna
Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title_full Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title_fullStr Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title_full_unstemmed Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title_short Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
title_sort health-related quality of life in patients living with wilson disease in spain: a cross-sectional observational study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381913/
https://www.ncbi.nlm.nih.gov/pubmed/37510937
http://dx.doi.org/10.3390/jcm12144823
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