Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever
Authors' conclusion
Cluster analysis identified heterogeneous patterns of disease expression, suggesting that the genotype alone does not fully explain clinical variability in FMF.
Study context
- Population
- Paediatric patients diagnosed with Familial Mediterranean fever (FMF) between 2004 and 2025 according to Eurofever criteria, single centre
- Participants
- 185 patients
- Exposure
- Genetically confirmed FMF (homozygous, compound heterozygous) vs symptomatic heterozygotes; clinical clusters
- Symptomatic heterozygotesn = 93
- Outcome
- Clinically meaningful subgroups identified by clustering analysis, with their clinical features and disease trajectories
Methodological detailsmonocentric, clustering analysis
- Monocentric
- Clustering analysis
Main finding
As reported in the abstract
Clusters of paediatric FMF
- Cluster analysis identified distinct subgroups, from asymptomatic or mild heterozygotes without treatment to early-onset homozygous patients with severe disease requiring higher-dose colchicine and IL-1 inhibitors
- 5
Observational data: associations, not effects.
Further findings
Cohort characteristics
- Median age at onset (years)
- 2.5
- Median diagnostic delay (months)
- 24
- Symptomatic heterozygotes, n (%)
- 93 (50%)
Heterozygotes vs genetically confirmed FMF
- Heterozygotes had milder disease, lower colchicine doses and less frequent IL-1 inhibitor use
Original publication
Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever. RMD Open. Published 3 July 2026. doi:10.
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