Knowledge and attitudes toward rare diseases in Lima, Peru: a cross-sectional study on public awareness of healthcare

Rare diseases (RD) affect up to 8% of the global population; however, public awareness and understanding of RD remain limited. This study assessed knowledge and attitudes toward RD among residents of Lima, Peru. A cross-sectional analytical study was conducted among 424 adult residents of Lima using a structured online questionnaire. Data included sociodemographic characteristics, familiarity with RD, health insurance status, and perspectives on public funding. Descriptive statistics were calculated. Differences in knowledge scores were assessed using Student’s t test and analysis of variance. Multiple linear regression identified factors associated with knowledge, and crude and adjusted prevalence ratios were estimated by knowledge level. The mean RD knowledge score was 53.9 (SD = 14.45), and 85.4% of participants scored below 69, indicating limited knowledge. Despite this, more than 80% supported public funding and insurance coverage for RD. Lower knowledge scores were associated with specific occupations (β = −5.8; p < 0.001), older age (β = −0.21; p = 0.002), and unfavorable attitudes toward insurance coverage (β = −6.7; p = 0.043). Knowledge of RD was limited, but supportive attitudes toward funding highlight opportunities for advocacy and policy development. Limitations include non-probability sampling and possible item misinterpretation. Rare diseases affect a small number of people individually but collectively impact many families worldwide. Despite this, public understanding of these conditions remains poorly documented. In this study, we assessed the level of knowledge among adults in Lima regarding rare diseases and their attitudes toward supporting those affected. We surveyed 424 adults using an online questionnaire about rare diseases. We collected data on age, gender, occupation, prior awareness of rare diseases, as well as opinions on insurance coverage and public funding. The responses were analyzed to determine overall knowledge levels and to identify factors associated with varying degrees of understanding. Most participants had limited knowledge of rare diseases, with over 80% scoring below the threshold for adequate understanding. However, a large majority supported the principle that the government and insurance systems should provide financial coverage for the care of individuals with these conditions. Lower knowledge was more common among older participants, specific occupational groups, and those who expressed less support for insurance coverage. These results highlight the need for clear, accessible educational initiatives, particularly for targeted groups, to enhance public understanding of rare diseases. Overall, our findings reveal a discrepancy between limited public knowledge and robust support for financial assistance. Leveraging these positive attitudes could assist health authorities and advocacy groups in developing enhanced educational programs and policies to improve care and support for the rare disease community in Peru.