Significant heterogeneity in the diagnosis and long-term management of Wilson disease: Results from a large multicenter Spanish study

Berenguer, Marina; Vergara, Mercedes; Almohalla, C Carolina; Hernández, Alicia; Blanco, Sonia; Testillano, M.; Girona, Eva; Casado, Marta; García, Miren; Catalina, María‐Vega; Muñoz, C Carolina; Gutiérrez, María Luisa; Molina, Esther; Romero, Míriam; Otero, Alejandra; Hernáez-Alsina, Tania; Lorente, Sara; Masnou, Helena; Bonet, Lucía; Soto, Susana; Gisbert, C Concha; Valer, M.P.; Gomez, Judith C.; Pacheco, Gemma; Morillas, Julia; González, Martha Elisa Nateras; Dominguez, Nuria; Lázaro, María Teresa; Pascual, Sonia; Castelló, Immaculada; González, Rocío

doi:10.1016/j.gastrohep.2022.10.018

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…Patients' characteristics included in this study (58% male; highly enriched with isolated hepatic phenotypes, 81.4%) might be explained by the origin of the study design, which was developed by hepatologists, and are similar to those described in other studies in Europe [29][30][31][32]. It is important to mention that most of the patients included in the study had non-advanced liver disease, and most of the neurological/mixed phenotypes had a low UWDRS score at the inclusion visit.…”

Section: Discussionmentioning

confidence: 79%

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

Mariño,

Berenguer,

Peña-Quintana

et al. 2023

JCM

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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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Section: Discussionmentioning

confidence: 79%

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

Mariño,

Berenguer,

Peña-Quintana

et al. 2023

JCM

Self Cite

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show abstract

“…Indeed, we do not have such big numbers of WD patients in our health system. Even if we consider the most restrictive prevalence estimate scenario (prevalence: 1/30,000 inhabitants) (4), more than 1,500 individuals in Spain would be affected by the disease, and these numbers are far removed from the real-world figures reported in our country (5). The recent development of a National Registry of Wilson's Disease in Spain (https://aeeh.es/registro/registro-de-enfermedad-de-wilson/), supported by the Spanish Association for the Study of the Liver (AEEH), was intended to render WD more visible, and to centralize all WD cases in one place.…”

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confidence: 95%

Recent advances in diagnosis and management of Wilson Disease

Mariñó¹

2023

Rev Esp Enferm Dig

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Gandouling induces GSK3β promoter methylation to improve cognitive impairment in Wilson's disease

Tian,

Wu,

Zhao

et al. 2024

Journal of Ethnopharmacology

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Significant heterogeneity in the diagnosis and long-term management of Wilson disease: Results from a large multicenter Spanish study

Cited by 3 publications

References 21 publications

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

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

Recent advances in diagnosis and management of Wilson Disease

Gandouling induces GSK3β promoter methylation to improve cognitive impairment in Wilson's disease

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