Nurses’ Knowledge of Rare Diseases: A Systematic Review

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. Conclusions: 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.