Clinical, genetic, and therapeutic differences in pediatric versus adult colchicine-resistant FMF patients

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent febrile episodes and serositis. Colchicine-resistant FMF represents a challenging subset of patients with more severe clinical manifestations, limited treatment options, and increased risk of long-term complications.

This study aimed to compare clinical manifestations, genetic mutations, comorbidities, and treatment approaches between pediatric and adult patients diagnosed with colchicine-resistant FMF.

This retrospective cross-sectional study included 107 colchicine-resistant FMF patients who received biologic treatment at Ankara Bilkent City Hospital between 2018 and 2023. Demographic, clinical, and genetic data were collected and compared between the groups. Treatment response was evaluated using the International Severity Score for FMF (ISSF).

A total of 107 patients with colchicine-resistant FMF were included, comprising 38 pediatric and 69 adult individuals. Female predominance was noted in both groups, more prominently in pediatric patients (68.4% vs. 53.6%). Classical FMF symptoms; abdominal pain (100% vs. 89.9%, p = 0.042), fever (97.4% vs. 82.6%, p = 0.025), chest pain (57.9% vs. 24.6%, p = 0.001), and arthritis (50.0% vs. 26.1%, p = 0.013) were significantly more prevalent in pediatric patients. In contrast, adult patients more frequently presented with inflammatory back pain (40.6% vs. 10.5%, p = 0.001), persistent inflammation (24.6% vs. 7.9%, p = 0.039), and amyloidosis (36.2% vs. 2.6%, p = 0.001). Following biological treatment, median ISSF scores decreased significantly in both groups (5.0 to 0.0, p < 0.001). Although overall MEFV mutation distribution was similar between groups (p = 0.574).

This study highlights significant age-related differences in clinical presentation and treatment patterns among crFMF patients. Pediatric cases tend to present with a more typical and severe phenotype, while adults exhibit higher rates of complications such as amyloidosis. These findings underscore the need for age-tailored diagnostic and therapeutic approaches in colchicine-resistant FMF.