{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:28:01Z","timestamp":1787005681752,"version":"build-2736575974"},"reference-count":45,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Alexion, AstraZeneca Spain"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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\u2019 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\u2019 HRQoL, especially in the emotional domain.<\/jats:p>","DOI":"10.3390\/jcm12144823","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T01:15:45Z","timestamp":1690161345000},"page":"4823","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study"],"prefix":"10.3390","volume":"12","author":[{"given":"Zoe","family":"Mari\u00f1o","sequence":"first","affiliation":[{"name":"Liver Unit, Hospital Cl\u00ednic Barcelona, Instituto de Investigaciones Biom\u00e9dicas August Pi i Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), European Reference Networks (ERN)-RARE Liver, University of Barcelona, 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9246-4264","authenticated-orcid":false,"given":"Marina","family":"Berenguer","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Hospital Universitari i Polit\u00e8cnic La Fe, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), Instituto de Investigaci\u00f3n Sanitaria (IIS La Fe), 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6052-5894","authenticated-orcid":false,"given":"Luis","family":"Pe\u00f1a-Quintana","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Hepatoloy and Nutrition Unit, Complejo Hospitalario Universitario Insular Materno-Infantil, 35016 Las Palmas de Gran Canaria, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de la Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CIBEROBN), Instituto de Salud Carlos III, University of Las Palmas de Gran Canaria, 35001 Las Palmas de Gran Canaria, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Olveira","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hospital La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1265-0380","authenticated-orcid":false,"given":"Anna","family":"Miralpeix","sequence":"additional","affiliation":[{"name":"Liver Unit, Hospital Cl\u00ednic Barcelona, Instituto de Investigaciones Biom\u00e9dicas August Pi i Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), European Reference Networks (ERN)-RARE Liver, University of Barcelona, 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Sastre","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Hospital Universitari i Polit\u00e8cnic La Fe, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), Instituto de Investigaci\u00f3n Sanitaria (IIS La Fe), 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Reyes-Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Hepatoloy and Nutrition Unit, Complejo Hospitalario Universitario Insular Materno-Infantil, 35016 Las Palmas de Gran Canaria, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Castillo","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hospital La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e0udia","family":"Garc\u00eda-Sol\u00e0","sequence":"additional","affiliation":[{"name":"Liver Unit, Hospital Cl\u00ednic Barcelona, Instituto de Investigaciones Biom\u00e9dicas August Pi i Sunyer (IDIBAPS), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), European Reference Networks (ERN)-RARE Liver, University of Barcelona, 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Bono","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Hospital Universitari i Polit\u00e8cnic La Fe, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Hep\u00e1ticas y Digestivas (CIBERehd), Instituto de Investigaci\u00f3n Sanitaria (IIS La Fe), 46026 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Romero","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hospital La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8549-9482","authenticated-orcid":false,"given":"Francisco Javier","family":"P\u00e9rez-S\u00e1daba","sequence":"additional","affiliation":[{"name":"Outcomes\u201910 SLU, 12071 Castell\u00f3n de la Plana, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2933-3998","authenticated-orcid":false,"given":"Susana","family":"Aceituno","sequence":"additional","affiliation":[{"name":"Outcomes\u201910 SLU, 12071 Castell\u00f3n de la Plana, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Anguera","sequence":"additional","affiliation":[{"name":"Medical Department, Alexion, AstraZeneca Rare Diseases, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Diao, S.P., Zhuang, Y.S., Huang, Y.Q., Zhou, Z.H., Liu, A.Q., and Hong, M.F. 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Commun."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/14\/4823\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:16:34Z","timestamp":1760127394000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/14\/4823"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,21]]},"references-count":45,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["jcm12144823"],"URL":"https:\/\/doi.org\/10.3390\/jcm12144823","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,21]]}}}