ArticleRMD open2024
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Article in RMD open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Long-term clinical course of pediatric familial Mediterranean fever with heterozygous pathogenic MEFV exon 10 variants.European journal of pediatrics · 2026Article
- Interleukin-6 Levels and Interleukin-6 rs1800795 Variant in Pediatric Familial Mediterranean Fever: Associations with Clinical Manifestations, Inflammatory Markers, and MEFV Mutation Status.Diagnostics (Basel, Switzerland) · 2026Article
- Discontinuing Colchicine in Pediatric Familial Mediterranean Fever: Real-Life Experience from a Long-Term Follow-Up Cohort.Paediatric drugs · 2026Article
- Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review.World journal of clinical pediatrics · 2026Article
- Colchicine resistance prediction criteria from the TURPAID cohort do not apply to the JIR cohort: a multicentre descriptive analysis.RMD open · 2026Observational
- Assessment of Nutritional Status in Children with Familial Mediterranean Fever Using Prognostic Nutritional Index and Controlling Nutritional Status Score: Relationship with Clinical Findings and MEFV Mutations.Children (Basel, Switzerland) · 2025Article
- Re-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study.Rheumatology (Oxford, England) · 2025Article
- Serum Galectin-3 and Presepsin Levels in Pediatric Familial Mediterranean Fever Patients During Remission: A Prospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Pediatric COPA Syndrome Overlapping With Heterozygous Familial Mediterranean Fever: A Dual Inflammatory Disorder.Case reports in pediatrics · 2025Article
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFamilial Mediterranean fever (FMF) is a genetic disease leading to recurrent episodes of inflammation. Two pathogenic variants are required for classical disease, but the disease can occur in heterozygous patients. Patients are treated continuously with colchicine to prevent amyloid A (AA) amyloidosis, including heterozygous patients who display a moderate form of FMF and rarely develop AA amyloidosis. The need for lifelong colchicine treatment in heterozygous FMF is therefore controversial. We aimed to characterise genotype-specific levels of inflammatory biomarkers, and to focus on heterozygous patients who discontinued colchicine.
methodsAll patients with FMF from the European databases AIDnet and JIRcohort who received colchicine during follow-up were included. Demographics, C reactive protein (CRP), serum amyloid A (SAA), S100A8/A9 and S100A12 levels, leucocyte and neutrophil counts were extracted. Visits were classified as active, subclinical or inactive according to symptoms, CRP and SAA levels.
resultsData from 747 patients were extracted (233 homozygous, 201 compound heterozygous, 224 heterozygous patients, 49 heterozygous with one class III variant and 40 compound heterozygous with two class III variants). During active visits, all biomarker levels were higher compared with inactive visits (p<0.001). Heterozygous patients showed lower levels of CRP, SAA, S100A8/A9 and S100A12 during inactive and subclinical visits than patients with two class IV-V variants. Colchicine was discontinued in 52 heterozygous patients and reintroduced in 23 of them (44%).
conclusionS100A8/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.
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