Autoinflammatory & rare systemic diseases
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance
Authors' conclusion
Individuals with VUS variants in the MEFV gene may present with a classic FMF phenotype characterized by mild to moderate disease activity.
Study context
- Population
- Patients carrying only variants of uncertain significance (VUS) in the Mediterranean fever (MEFV) gene who met the paediatric criteria for familial Mediterranean fever (FMF)F: 152/M: 158
- Participants
- 310 patients
- Exposure
- Homozygous vs compound heterozygous vs heterozygous MEFV VUS genotypes
- Outcome
- Phenotypic characteristics of patients with MEFV VUS
Main finding
As reported in the abstract
- Mean age at diagnosis (years)
- 7.51 ± 3.9
- Mean age at symptom onset (years)
- 6.03 ± 3.86
- Single variant (heterozygous)
- 75.5%
- Compound heterozygous
- 17.1%
- Homozygous
- 7.4%
- Common VUS alleles
- 93%
- E148Q
- 65.7%
- P369S
- 15.6%
- R408Q
- 7.6%
- A744S
- 4.1%
- Abdominal pain
- 90.6%
- Fever
- 84.2%
- Arthralgia
- 58.7%
Observational data: associations, not effects.
Further findings
Disease activity in homozygous patients
- Mean number of annual attacks (higher)
- 11.2/year
- Pras severity score (higher)
- 5.86
- Moderate disease severity (greater proportion)
- 56.5%
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance. Rheumatology (Oxford). Published 11 March 2025. doi:10.
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