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Systematic Review

Nurses’ Knowledge of Rare Diseases: A Systematic Review

by
Inmaculada Muñóz Sánchez
1,
Jose Manuel Martínez-Linares
2,
Raquel Rodríguez-Blanque
2,
Jonathan Cortés-Martín
2,*,
Andrés Reinoso-Cobo
3,
Beatriz Lechuga Carrasco
4 and
Juan Carlos Sánchez-García
2
1
Gran Capitán Health Center, Granada Health District, 18013 Granada, Spain
2
Department of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain
3
Department of Nursing and Podiatry, Faculty of Health Sciences, University of Malaga—Teatinos, Arquitecto Francisco Peñalosa 3, 29071 Malaga, Spain
4
Virgen de las Nieves University Hospital, 18014 Granada, Spain
*
Author to whom correspondence should be addressed.
Nurs. Rep. 2025, 15(9), 321; https://doi.org/10.3390/nursrep15090321
Submission received: 8 August 2025 / Revised: 31 August 2025 / Accepted: 2 September 2025 / Published: 4 September 2025

Abstract

Background: Rare diseases affect fewer than 1 in 2000 people, but collectively, they impact millions. Their diagnosis and management present challenges due to low prevalence, clinical heterogeneity, and a lack of standardized protocols. Nurses play a key role in assisting and caring for these patients by providing direct care, emotional support, and health education. Objective: The objective of this systematic review is to update the existing knowledge on nurses’ level of understanding regarding rare diseases, as a decline in their training can compromise the quality of care and access to early detection. Methodology: A bibliographic search was conducted in Scopus, PubMed, CINAHL, SciELO, and Cochrane Library, selecting studies published between 2014 and 2024 on rare disease knowledge. The PRISMA model was followed, and the review was registered with PROSPERO under code CRD42024580656. Result: Ultimately, 24 studies were included. The main results showed a significant gap in nursing education concerning rare diseases. Conclusion: Continuous education, telemedicine, and the integration of health technologies were highlighted as improving competencies in rare diseases. Therefore, it is a priority to increase nursing training in rare diseases at all levels.
Keywords: rare diseases; nursing; level of knowledge; health literacy rare diseases; nursing; level of knowledge; health literacy

Share and Cite

MDPI and ACS Style

Muñóz Sánchez, I.; Martínez-Linares, J.M.; Rodríguez-Blanque, R.; Cortés-Martín, J.; Reinoso-Cobo, A.; Lechuga Carrasco, B.; Sánchez-García, J.C. Nurses’ Knowledge of Rare Diseases: A Systematic Review. Nurs. Rep. 2025, 15, 321. https://doi.org/10.3390/nursrep15090321

AMA Style

Muñóz Sánchez I, Martínez-Linares JM, Rodríguez-Blanque R, Cortés-Martín J, Reinoso-Cobo A, Lechuga Carrasco B, Sánchez-García JC. Nurses’ Knowledge of Rare Diseases: A Systematic Review. Nursing Reports. 2025; 15(9):321. https://doi.org/10.3390/nursrep15090321

Chicago/Turabian Style

Muñóz Sánchez, Inmaculada, Jose Manuel Martínez-Linares, Raquel Rodríguez-Blanque, Jonathan Cortés-Martín, Andrés Reinoso-Cobo, Beatriz Lechuga Carrasco, and Juan Carlos Sánchez-García. 2025. "Nurses’ Knowledge of Rare Diseases: A Systematic Review" Nursing Reports 15, no. 9: 321. https://doi.org/10.3390/nursrep15090321

APA Style

Muñóz Sánchez, I., Martínez-Linares, J. M., Rodríguez-Blanque, R., Cortés-Martín, J., Reinoso-Cobo, A., Lechuga Carrasco, B., & Sánchez-García, J. C. (2025). Nurses’ Knowledge of Rare Diseases: A Systematic Review. Nursing Reports, 15(9), 321. https://doi.org/10.3390/nursrep15090321

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