Autoinflammatory & rare systemic diseases
Re-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study
Authors' 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.
Study context
- Population
- Paediatric patients with a heterozygous pathogenic MEFV mutation previously diagnosed with FMF, single tertiary centre, September 2024–March 202584 attempted discontinuation
- Participants
- 136 patients
- Exposure
- Successful colchicine discontinuation vs resumed treatment
- Remained off therapyn = 72
- Resumed treatmentn = 12reference
- Outcome
- Predictors of successful colchicine discontinuation
Methodological detailssingle tertiary centre, multivariate logistic regression, ROC curve analysis
- Single tertiary centre
- Multivariate logistic regression
- ROC curve analysis
Main finding
As reported in the abstract
Colchicine discontinuation outcome among those who attempted it
- ≥70.8% reduction in attack frequency in first six months of therapy predicted successful discontinuation
- AUC 0.883 (95% CI 0.823-0.943)
Observational data: associations, not effects.
Original publication
Re-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study. Rheumatology (Oxford). Published 13 June 2025. doi:10.
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