The journey of MEFV heterozygous children: with or without colchicine

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.