Autoinflammatory & rare systemic diseases
Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort
Authors' conclusion
This study expands the scope of the homozygous M694V-associated phenotype by identifying new non-canonical features and reinforcing previous knowledge on a larger scale.
Study context
- Population
- Patients followed at the FMF clinic of Sheba Medical Center, 2010–2020
- Participants
- 3,866 patients
- Exposure
- Homozygous M694V vs other MEFV genotypes
- Homozygous M694Vn = 517
- Other genotypesn = 3,349reference
- Outcome
- Classical FMF features and non-canonical manifestations
Methodological detailshypothesis-generating, automated algorithm extraction from structured medical records, single-centre
- Hypothesis-generating
- Automated algorithm extraction from structured medical records
- Single-centre
Main finding
As reported in the abstract
- Higher rate of DVT in Homozygous M694V
- p = 0.03
- Higher rate of liver dysfunction in Homozygous M694V
- p = 0.02
- Higher rate of abnormal liver enzymes in Homozygous M694V
- p < 0.001
- Higher rate of congestive HF in Homozygous M694V
- p = 0.01
Observational data: associations, not effects.
Further findings
- More Homozygous M694V patients received biologic agents and had more ED visits and higher hospitalisation rates
- P ≤ 0.001 in both
Original publication
Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort. Semin Arthritis Rheum. Published 29 August 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →