Different arthritis patterns in pediatric familial Mediterranean fever: Focus on exon 10 biallelic pathogenic genotypes
Authors' conclusion
Our study highlights the diverse arthritis presentations in pediatric FMF patients with biallelic pathogenic genotypes.
Study context
- Population
- Pediatric familial Mediterranean fever (FMF) patients with biallelic pathogenic MEFV exon 10 mutations, followed for at least 12 months
- Participants
- 808 patients
- Exposure
- Arthritis vs no arthritis; by arthritis duration and axial joint involvement
- Outcome
- Prevalence and characteristics of arthritis
Main finding
As reported in the abstract
Prevalence of arthritis
Arthritis
19.2%
Acute arthritis
17.9%
Chronic arthritis
6.4%
Observational data: associations, not effects.
Further findings
M694V allele frequency in arthritis
- M694V allele frequency significantly higher in arthritis
- 82%, P<0.01
- M694V/M694V genotype predominance
- 70.3%
- V726A and R761H alleles less frequent
Chronic arthritis with axial involvement
- Older age at diagnosis
- P < 0.01
- Increased polyarticular involvement
- P < 0.01
- Elevated colchicine resistance
- 22.6%, P<0.01
- HLA-B27 positivity higher in axial arthritis
- Need for advanced therapies did not differ significantly
Most frequently affected joints
- Knee and sacroiliac joints
Original publication
Different arthritis patterns in pediatric familial Mediterranean fever: Focus on exon 10 biallelic pathogenic genotypes. Joint Bone Spine. Published 15 March 2025. doi:10.
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