Merve ÖZTÜRK, Yusuf Çetin DOĞANER, Ümit AYDOĞAN, Sedat YILMAZ
Gulhane Medical Journal - 2026;68(2):81-86
Aims: Familial Mediterranean fever (FMF) is a common autoinflammatory disease in Türkiye and worldwide. Diagnosis may be delayed because it can present with diverse clinical phenotypes. This study aims to determine the initial symptoms of patients with FMF, the time from symptom onset to diagnosis, and factors associated with delayed diagnosis. Methods: This cross-sectional study included patients with FMF who were under follow-up, receiving treatment, and who volunteered to participate. A face-to-face data collection form, including questions about the first symptoms of FMF, age at onset, and age at diagnosis, was administered to the patients. Results: Of the 169 patients, 58% (n=98) were female, and the mean age was 34.31+/-10.96 years. The mean age at onset of symptoms was 17.26+/-11.43 years, and the mean age at diagnosis was 24.67+/-12.62 years. The diagnostic delay was 7.41+/-8.57 years. The most common initial symptom of FMF was abdominal pain (72.8%, n=123). Diagnostic delay was significantly longer in patients with joint pain than in patients without joint pain [6.00 (0-39) years vs. 3.00 (0-35) years; p=0.007]. Similarly, the diagnostic delay was significantly shorter in patients who had undergone surgery compared with those without a history of surgery [3.00 (0-39) years vs. 8.00 (0-37) years; p=0.002]. Conclusions: This study demonstrated that diagnostic delay remains a significant issue among patients with FMF, particularly those presenting with joint pain.
