Re-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study

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OBJECTIVES: FMF is an autoinflammatory disease associated with mutations in the MEFV gene. While typically inherited in an autosomal recessive pattern, heterozygous individuals may also exhibit FMF symptoms, often with a milder disease course. The long-term management of colchicine therapy in heterozygous patients, particularly decisions regarding its discontinuation, remains a clinical challenge. METHODS: This retrospective cohort study evaluated paediatric patients with a heterozygous pathogenic MEFV mutation who were followed at a single tertiary centre between September 2024 and March 2025. Both patients in whom colchicine therapy was successfully discontinued and those in whom discontinuation was not feasible were analysed. Clinical characteristics, attack features, inflammatory markers and treatment outcomes were assessed. Multivariate logistic regression and ROC curve analyses were performed to identify predictors of successful colchicine discontinuation. RESULTS: A total of 136 patients were included. Of the 84 patients who attempted colchicine discontinuation, 72 (85.7%) remained off therapy, while 12 (14.3%) resumed treatment. Early absence of attacks during follow-up was associated with successful colchicine discontinuation, whereas arthritis predicted continued treatment. ROC analysis showed that a ≥70.8% reduction in attack frequency during the first six months of therapy strongly predicted successful discontinuation (AUC = 0.883, 95% CI: 0.823-0.943). CONCLUSION: Our findings suggest that colchicine therapy can be safely discontinued in selected heterozygous individuals who show early absence of attacks, suggesting that the initial diagnosis of FMF in some patients may warrant reconsideration. However, it is important to closely monitor these children after treatment cessation, and decisions should be guided by careful follow-up and regular reassessment.