Before calling it Familial Mediterranean fever (FMF): MEFV variants of uncertain significance in autoinflammatory disease
Authors' conclusion
Patients with autoinflammatory disease carrying MEFV variants of uncertain significance may exhibit atypical clinical features.
Study context
- Population
- Paediatric patients with recurrent autoinflammatory manifestations who underwent MEFV genetic analysis and were receiving colchicine
- Exposure
- MEFV variants of uncertain significance (VUS) vs biallelic pathogenic MEFV variants
- Outcome
- Clinical features and classification by MEFV genotype
Main finding
As reported in the abstract
- VUS: fewer classical FMF features (serositis-related chest pain, arthritis)
- VUS: more frequent atypical manifestations (diarrhoea, oral aphthae, lymphadenopathy) and longer attack duration
- Disease burden (age at onset, attack frequency) similar between groups
- FMF criteria fulfilled by approximately half of patients with VUS
Observational data: associations, not effects.
Original publication
Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease. Rheumatology (Oxford). Published 14 May 2026. doi:10.
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