Factors associated with diagnostic delays in Peruvian patients with rare diseases.

Rare diseases affect fewer than 1 in 2,000 individuals. Patients often encounter barriers to specialist care and prompt diagnosis, hindering effective disease management and access to appropriate treatments. This study aimed to identify determinants of diagnostic delay among patients with rare diseases affiliated with Peruvian associations in 2024. A descriptive cross-sectional design was employed in 2024, enrolling patients with rare diseases or their caregivers from Peruvian associations. Data collection utilized an expert-validated survey encompassing sociodemographic characteristics, medical history, and diagnostic challenges. The primary outcome was diagnostic delay, defined as the interval from symptom onset to confirmed diagnosis. Data analysis included descriptive and inferential statistical methods. A total of 236 participants responded, with the majority being women (61.4%). A diagnosis was received within a year of symptom onset for 54.7% of participants, and 46.2% reported difficulties accessing healthcare. Major barriers identified included prolonged wait times for appointments or treatment (52.3%) and geographic limitations impeding access (37.6%). The median diagnostic delay was longer for women (63.1 months) compared to men (26.9 months). Limited access to healthcare was associated with an average delay of 21.8 months, whereas consulting more than ten general practitioners was associated with a 42.6-month delay. In summary, over half of the patients with rare diseases in Peru included in this study received a diagnosis within one year. However, the most significant delays were observed in non-genetic rare diseases. Key contributors to prolonged diagnostic timelines included limited access to healthcare and consultations with multiple general practitioners.