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Multicenter Study
. 2024 Nov 25;184(1):40.
doi: 10.1007/s00431-024-05887-8.

The journey of MEFV heterozygous children: with or without colchicine

Mustafa Çakan  1 , Ayşenur Alkaya  2 , Lütfiye Koru  3 , Betül Öksel  4 , Özlem Akgün  5 , Eray Tunce  6 , Gülçin Otar Yener  7 , Ayşe Tanatar  8 , Ferhat Demir  9 , Nihal Şahin  4 , Esra Bağlan  2 , Kübra Öztürk  3 , Hafize Emine Sönmez  4 , Semanur Özdel  2 , Betül Sözeri  6 , Nuray Aktay Ayaz  5
Affiliations
Multicenter Study

The journey of MEFV heterozygous children: with or without colchicine

Mustafa Çakan et al. Eur J Pediatr. .

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.

Keywords: MEFV gene; Carrier; Colchicine; Familial Mediterranean fever; Heterozygous.

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Conflict of interest statement

Declarations. Ethics approval: The study was approved by the local ethics committee of Zeynep Kamil Women and Children’s Diseases Training and Research Hospital (date: 20 March 2024, number: 38) and was performed according to the tenets of the Declaration of Helsinki. Written informed consent was received from the legal guardians of the children. Consent to participate: Informed consent was obtained from the legal guardians of the children. Consent for publication: Informed consent for publication was obtained from the legal guardians of the children. Competing interests: The authors declare no competing interests.

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