Cargando…
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...
Autores principales: | , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1785080562001641472 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10381913 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT marinozoe healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT berenguermarina healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT penaquintanaluis healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT olveiraantonio healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT miralpeixanna healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT sastreisabel healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT reyesdominguezana healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT castillopilar healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT garciasolaclaudia healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT bonoariadna healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT romeromiriam healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT perezsadabafranciscojavier healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT aceitunosusana healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy AT angueraanna healthrelatedqualityoflifeinpatientslivingwithwilsondiseaseinspainacrosssectionalobservationalstudy |