ArticleRheumatology (Oxford, England)2026
Familial Mediterranean fever in Azerbaijani children: a nationwide cohort study of genotype-phenotype association.
Article in Rheumatology (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesFamilial Mediterranean fever (FMF) is highly prevalent in Mediterranean populations, yet data from Azerbaijan remain scarce despite its location within the traditional FMF belt. This study presents the first nationwide characterization of paediatric FMF in Azerbaijan.
methodsA multicentre retrospective cohort study was conducted across paediatric and genetic referral centres in 11 regions of Azerbaijan. Demographic, clinical and genetic data were analysed. Genotype-phenotype associations were evaluated, with particular emphasis on the distribution of variants across exons and the allelic burden of exon 10 variants.
resultsA total of 349 paediatric patients (60.45% boys) were enrolled. The median age at symptom onset and diagnosis was 4 (0-18) and 7 (0-23) years, respectively. The most prevalent MEFV variants were M694V (47.3%), V726A (20.1%) and R202Q (19.8%). Zygosity distribution was 18.3% homozygous, 40% heterozygous and 41.5% compound heterozygous. Genotype-phenotype analyses included 329 patients after excluding isolated R202Q heterozygotes. Fever (79.3%) and abdominal pain (66.6%) were the most frequent manifestations. Compound heterozygous exon 10 genotypes were associated with earlier symptom onset in univariate analyses. In multivariable hierarchical logistic regression analyses, the presence of at least one M694V allele independently increased the likelihood of early-onset disease (odds ratio 2.10; 95% CI: 1.29, 3.43; P = 0.003), while the zygosity-based model supported an association between biallelic exon 10 involvement and early disease onset.
conclusionThis first nationwide paediatric FMF study from Azerbaijan reveals substantial regional genetic heterogeneity, with compound heterozygosity associated with earlier disease onset. These findings advance FMF epidemiology in the Caucasus and support improved genetic counselling and surveillance for high-risk genotypes.
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