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Introduction: Autoinflammatory diseases are characterized by recurrent systemic inflammation and often substantial diagnostic delay, increasing the risk of complications. We aimed to identify clinical and healthcare-related factors associated with earlier diagnosis.

Methods: This retrospective single-center study included patients with familial Mediterranean fever (FMF; rare) and cryopyrin-associated periodic syndromes (CAPS; ultra-rare). Demographic, clinical, and genetic data were analyzed. Patients were stratified by disease type, Mediterranean origin, birth cohort, and distance to the reference center. Diagnostic delay was defined as the interval between symptom onset and confirmed diagnosis.

Results: A total of 146 patients were included, of whom 80% were diagnosed in childhood. Median ages at symptom onset and diagnosis were 3 and 6 years, respectively, with an overall median diagnostic delay of 4 years. CAPS accounted for 44% and FMF for 56% of cases. Median diagnostic delay was significantly shorter in FMF compared with CAPS (2 vs. 9.5 years, p<0.001). A marked temporal improvement was observed, with median delay decreasing from 24 years before 2000 to 2 years after 2010 (p<0.001). Mediterranean origin was associated with earlier diagnosis (3 vs. 13 years, p<0.001). Index-case–driven identification shortened diagnostic pathways, particularly in adults. Greater distance to the reference center was associated with a higher number of physicians consulted and longer diagnostic pathways, with patients living >100 km more frequently consulting >10 physicians compared with those living <50 km (p<0.001).

Conclusion: Despite temporal improvements, diagnostic delay remains considerable. Enhancing clinical recognition, optimizing referral pathways, and integrating eHealth-based strategies may help reduce diagnostic disparities in autoinflammatory diseases.

Disclosures: J.K.D. has received research grants and speaker’s fees from Novartis and SOBI. The other authors declare no conflicts of interest.

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