Autoinflammatory & rare systemic diseases
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever
Authors' conclusion
S100A8/A9 and S100A12 proteins are biomarkers that can be used to assess disease activity. Heterozygous patients have lower levels of inflammatory biomarkers and some of them can sustainably discontinue colchicine treatment.
Study context
- Population
- All patients with Familial Mediterranean fever (FMF) from the European databases AIDnet and JIRcohort who received colchicine during follow-up
- Participants
- 747 patients
- Exposure
- Genotype-specific inflammatory biomarker levels in FMF; heterozygous vs two class IV-V variants
- Homozygousn = 233
- Compound heterozygousn = 201
- Heterozygousn = 224
- Heterozygous with one class III variantn = 49
- Compound heterozygous with two class III variantsn = 40
- Outcome
- Genotype-specific levels of inflammatory biomarkers (CRP, SAA, S100A8/A9, S100A12, leucocyte and neutrophil counts)
Methodological detailsmulticentre, European databases AIDnet and JIRcohort
- Multicentre
- European databases AIDnet and JIRcohort
Main finding
As reported in the abstract
Inflammatory biomarker levels by genotype
- Heterozygous patients showed lower C reactive protein (CRP), serum amyloid A (SAA), S100A8/A9 and S100A12 during inactive and subclinical visits than patients with two class IV-V variants
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| Biomarker levels, active vs inactive visitsAll biomarker levels higher during active visits | P < 0.001 |
Colchicine discontinuation in heterozygous patients
- Colchicine discontinued in heterozygous patients
- 52
- Colchicine reintroduced
- 23 of them (44%)
Original publication
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever. RMD Open. Published 24 November 2024. doi:10.
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