Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal
Authors' conclusion
This study provides valuable insights into the clinical predictors of the homozygous M694V genotype in paediatric FMF.
Study context
- Population
- Paediatric FMF patients with biallelic pathogenic variants in exon 10 of the Mediterranean fever gene, 37 paediatric rheumatology and/or nephrology clinics across Türkiye, followed 2014–2023
- Participants
- 3,981 patients
- Exposure
- Homozygous M694V vs other variants
- Outcome
- Predictability of the homozygous M694V genotype (clinical predictors; clinical scoring system)
Methodological detailsnationwide, multicentre
- Nationwide
- Multicentre
Main finding
As reported in the abstract
Independent predictors of homozygous M694V genotype (logistic regression)
- ≤3 years of age at symptom onset, family history, arthritis, myalgia, protracted febrile myalgia syndrome (PFMS), erysipelas-like erythema (ELE) and splenomegaly were independent predictors of the homozygous M694V genotype
- A clinical scoring system was proposed based on these findings
Observational data: associations, not effects.
Further findings
Symptom onset ≤3 years
P < 0.001
Colchicine resistance
P < 0.001
Age at diagnosis
P < 0.001
| Outcome | Group 1 | Group 2 | P value |
|---|---|---|---|
| Clinical manifestations: arthritis, ELE, PFMS | P < 0.001 for all | ||
| Arthritis | 27.5% | — not stated in the abstract | |
| ELE | 20.3% | — not stated in the abstract | |
| PFMS | 3.6% | — not stated in the abstract |
— not stated in the abstract
- Family history of FMF
- P < 0.001
Family history of FMF
- Higher prevalence in group 1
Clinical manifestations: arthritis, ELE, PFMS
- Significantly more frequent in group 1
Original publication
Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal. Rheumatology (Oxford). Published 21 April 2025. doi:10.
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