Autoinflammatory & rare systemic diseases
Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations
Authors' conclusion
Adult FMF patients with a single pathogenic MEFV mutation display specific clinical features as well as different evolution compared to patients with 2 pathogenic MEFV mutations.
Study context
- Population
- Adult familial Mediterranean fever (FMF) patients (Eurofever/PRINTO criteria), all sequenced for MEFV, single French referral centre
- Participants
- 581 patients
- Exposure
- FMF with one pathogenic exon 10 MEFV mutation vs two pathogenic MEFV mutations
- One mutationn = 178
- Two mutationsn = 403reference
- Outcome
- Clinical features and outcomes, one vs two mutations
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
- One mutation vs Two mutations: P < 0.001
- One mutation vs Two mutations: P < 0.001
- One mutation vs Two mutations: P < 0.001
- One mutation vs Two mutations: P = 0.001
- One mutation vs Two mutations: P < 0.05
- One mutation vs Two mutations: P = 0.001
- One mutation vs Two mutations: P < 0.001
- Differences remained significant after adjustment for age at disease onset (childhood or adulthood)
Observational data: associations, not effects.
Further findings
- No clinical difference between M694V/E148Q and M694V/WT
Original publication
Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations. Joint Bone Spine. Published 30 January 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →