Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain


Por: Gimenez-Lozano C, Páramo-Rodríguez L, Cavero-Carbonell C, Corpas-Burgos F, López-Maside A, Guardiola-Vilarroig S and Zurriaga O

Publicada: 1 ago 2022 Ahead of Print: 19 ago 2022
Resumen:
Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (euro300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.

Filiaciones:
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 Preventive Medicine and Public Health, Hospital Universitario Doctor Peset, 46017 Valencia, Spain

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 Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain

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 Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain

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 Economic, Demographic and Social Statistics Service, Valencian Institute of Statistics, Valencian Region, 46020 Valencia, Spain

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 Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain

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 Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain

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 Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, 46020 Valencia, Spain

 Directorate General for Public Health and Addictions, Regional Ministry of Health, Valencian Region, 46020 Valencia, Spain

 Department of Preventive Medicine and Public Health, Food Sciences, Toxicology and Forensic Medicine, University of Valencia, 46010 Valencia, Spain
ISSN: 16617827





INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
Editorial
MDPI AG, POSTFACH, CH-4005 BASEL, SWITZERLAND, Suiza
Tipo de documento: Article
Volumen: 19 Número: 16
Páginas:
WOS Id: 000845822400001
ID de PubMed: 36012000
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