Intractable & Rare Diseases Research | Factors Affecting Diagnostic Delays in Peruvian Patients with Rare Diseases

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This study investigates diagnostic delays among Peruvian patients with rare diseases and identifies key contributing factors, including gender disparities, complexity of non-genetic diseases, limited access to medical resources, and multiple visits to primary care physicians.

 

Literature Overview
The article titled Factors associated with diagnostic delays in Peruvian patients with rare diseases, published in the Intractable & Rare Diseases Research journal, reviews and summarizes factors related to diagnostic delays in Peruvian patients with rare diseases. A total of 236 valid questionnaires were collected through patient associations, and the time interval from symptom onset to diagnosis was analyzed. Factors such as gender, education level, healthcare system, and disease type were explored. The study found that 45.3% of patients took more than 12 months to receive a diagnosis, with non-genetic rare disease patients showing longer delays.

Background Knowledge
Rare diseases often challenge physicians due to their low prevalence, particularly in developing countries. In Peru, it is estimated that over 2.5 million people are affected by rare diseases, yet the diagnosis rate remains low, primarily due to limited medical resources and uneven distribution of specialists. This study highlights the importance of improving healthcare accessibility, enhancing physician training, and promoting diagnostic technologies for rare diseases, especially for non-genetic cases where specific diagnostic tools are lacking. Moreover, the absence of a national rare disease registry in Peru further hampers research and treatment progress.

 

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Study Methods and Experiments
This study employed a descriptive cross-sectional design. In 2024, 241 questionnaires were collected through 14 Peruvian rare disease patient associations, with 236 questionnaires deemed valid. Variables included age, gender, education level, household income, residence, religion, initial healthcare facility, diagnostic facility, time to diagnosis, and diagnostic methods. Differences were analyzed using the Mann-Whitney U test, ANOVA, or Kruskal-Wallis test, while multivariate linear and logistic regression models were applied to explore continuous and binary outcomes of diagnostic delay.

Key Findings and Perspectives

• 45.3% of patients took more than 12 months to be diagnosed, while 54.7% were diagnosed within one year.
• Female patients had significantly longer diagnostic times (63.1 months) compared to male patients (26.9 months).
• Patients with no formal education were diagnosed within 6 months, whereas those with bachelor's degrees took 36 months, showing a paradoxical relationship between education level and diagnostic delay.
• 52.3% of patients reported long waiting times for physician appointments, and 37.6% indicated that geographic barriers limited access to medical care.
• Non-genetic rare diseases had an average diagnostic delay of 54 months longer than genetic diseases.
• Patients who consulted more than 10 general practitioners experienced a diagnostic delay of up to 142.6 months.
• The type of healthcare system (MINSA, EsSalud, private) had no significant impact on diagnostic delay.
• 53.3% of diagnoses were made at tertiary-level healthcare institutions, primarily through clinical evaluation combined with laboratory and imaging tests.

Significance and Future Directions
This study provides the first large-scale survey data on rare diseases in Peru, revealing key factors influencing diagnostic delays. The findings suggest that improving access to healthcare, enhancing rare disease education for general practitioners, promoting tele-genetic counseling, and establishing a national rare disease registry are essential to improving rare disease management. Future research should expand the sample size and combine clinical data with patient recall to reduce bias.

 

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Conclusion
This study examined diagnostic delays among Peruvian rare disease patients and found that approximately 45.3% were diagnosed more than 12 months after symptom onset. Female patients and those with non-genetic diseases experienced significantly longer delays, indicating that gender and disease type are significant contributors. Limited access to medical resources and multiple visits to general practitioners were also identified as important factors. Recommendations include improving primary care training, establishing referral networks, promoting tele-genetic counseling, and creating a national rare disease registry to shorten the diagnostic journey. Despite limitations such as recall and selection bias, this study provides foundational data for rare disease research in Peru and underscores the necessity of systemic healthcare reform.

 

Araceli Margot Falen Solís and Hugo Hernán Abarca Barriga. Factors associated with diagnostic delays in Peruvian patients with rare diseases. Intractable & Rare Diseases Research.