ArticleEuropean journal of pediatrics2024
The journey of MEFV heterozygous children: with or without colchicine.
Article in European journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 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
- 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
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the rate of colchicine use in the longitudinal follow-up of familial Mediterranean fever (FMF) carriers and identify variables that could predict the necessity of colchicine treatment in this group. The study was conducted in 9 pediatric rheumatology centers. The files of children with MEFV gene carriers were retrospectively reviewed between February 2014 and May 2024. The study included 869 children with a median follow-up duration of 28 months (12-124). In most of the cases (n: 369; 43.5%), MEFV gene analysis was ordered by a pediatric rheumatologist, while in 228 children (26.2%), gene analysis was conducted at the request of a geneticist. The most common reason for ordering MEFV gene analysis was the presence of FMF-like symptoms (n: 349; 40.1%), followed by genetic screening due to a family history of FMF in relatives (n: 267; 30.7%). Colchicine therapy was initiated in 13.9% (n: 121) of the children. Variables that showed statistically significant differences in colchicine users included having a family history of amyloidosis, the MEFV gene ordered by a pediatric rheumatologist, and the presence of FMF-like symptoms. Conclusions: A small number of MEFV gene carriers develop FMF symptoms during the follow-up period, most commonly within 2-3 years. We do not recommend routine family screening for the MEFV gene after the diagnosis of an index patient unless there is a history of amyloidosis in the family or individuals having FMF-like symptoms.
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