Abstract
Objective: Periodic fever syndromes (PFS) are a broad group of autoinflammatory diseases characterised by recurrent episodes of fever in the absence of microbial, autoimmune or malignant conditions. We aimed to evaluate the clinical and genetic characteristics of patients with periodic fever syndrome. And to evaluate the safety and efficacy of colchicine in the treatment of PFS.
Methods: This study included patients diagnosed with PFS between April 2021 and January 2024 at Bei Jing Children's Hospital, Immunology Department. We retrospectively analyzed the clinical data (clinical features, laboratory findings and genetic features). The onset of the disease and adverse events following the use of colchicine were also analysed.
Results: A total of 130 patients were included in this study, with a male to female ratio of 1.2:1. The mean (95% CI) ages at symptom onset and diagnosis were 3.59(3.06-4.11) years and 5.33(4.79-5.87) years, respectively. The average duration of the febrile episode is 3.92 days and the average frequency of the febrile episode is 3.44 weeks. During PFS flares, leukocytes, neutrophils, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were significantly higher than in inter-episode periods. The most frequently detected gene mutation is MEFV. Thirty-five patients were free of clinical symptoms 5 month after taking colchicine.
Conclusion: We present a cohort of children and adolescence with periodic fever syndrome. The most common PFS is PFAPA and the most common gene mutation in PFS patients is MEFV. Colchicine is a safe and effective drug for the treatment of PFS.