In this issue of the European Journal of Internal Medicine, Sagris et al. explore the clinical relevance of the R202Q homozygous variant in the MEFV gene in a cohort of Greek patients displaying recurrent abdominal pain, and its potential association with atypical familial Mediterranean fever (FMF) phenotypes [1]. The authors describe 41 Greek patients with the R202Q variant and compare them with patients displaying FMF-like features, but with only two pathogenic exon 10 MEFV mutations. In this commentary, we discuss the R202Q homozygous phenotype in light of recent genetic consensus and international recommendations.
