Periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome is characterized by recurrent episodes of fever. Attenuated disease severity was considered in patients with Mediterranean fever (MEFV) gene variations. Corticosteroids are highly effective in controlling the symptoms but usually cause more frequent episodes. Frequent fever episodes either initiated after the steroid therapy or as an initial disease characteristics are the most challenging feature. Sixty-seven patients were prospectively followed from September 2015 to January 2018. MEFV variants were searched in all patients. Colchicine therapy was initiated in patients with MEFV variants and with shortened intervals after the initiation of steroid therapy. Heterozygous MEFV gene variants were detected in 23 patients (34.3%). Higher exon 10 allel frequencies were found in patients with frequent fever episodes. Among 26 patients with increased episodes, colchicine treatment decreased the number of the episodes in 8 of 10 (80%) and 4 of 16 (25%) patients with and without variants, respectively (p = 0.022). Fever duration decreased (3.26 ± 1.38 vs. 1.57 ± 0.57 days, p < 0.001) at the third month of therapy in variant(+) patients. In variant positive patients colchicine prophylaxis reduced the duration of attacks at the third months of therapy. Shortened intervals due to steroid therapy were increased at the sixth months of colchicine therapy.
KiĹźla Ekinci RM, Balci S, Ufuk AltintaĹź D, Yilmaz M
Archives of rheumatology •
This study aims to describe the effects of concomitant disorders on the course of familial Mediterranean fever (FMF) and the relevance of genotype on these associations. Files of 494 FMF patients (257 males, 237 females; mean age 12.8±1.94 years; range 1.6 to 23 years) were retrospectively examined. Age of diagnosis, sex, MEditerrenean FeVer mutations, colchicine dosage, disease severity score and concomitant diseases in FMF course were recorded. FMF diagnoses were based on Tel-Hashomer criteria and disease severity was determined by international severity scoring system for FMF. Patients were divided into two groups as M694V positives and M694V negatives. We compared the groups in terms of accompanying illnesses, MEditerrenean FeVer mutations, and disease severity scores among five concomitant diseases: juvenile idiopathic arthritis (JIA), asthma, Henoch- Schonlein purpura, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome, and others. The mean age at diagnosis was 8.7±1.9 years. Eighty-five patients (17.2%) had accompanying diseases including JIA, asthma, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome, and Henoch-Schonlein purpura. Mean disease severity scores were 2.4±1.1 in patients with only FMF and 3.0±1.5 in patients with concomitant disorders (p=0.001). Patients with concomitant JIA showed the highest severity scores (4.3±1.6). A statistically significant difference was found with one-way analysis of variance. Our findings indicate that concomitant diseases, particularly JIA, influence FMF severity. Therefore, it may be beneficial to focus on diagnosis and treatment of comorbid inflammatory diseases, which may worsen the course of FMF.
