The goals of this study were to compare demographic data, clinical features, and severity scores of patients with familial Mediterranean fever who carried the E148Q variant with patients who had homozygous pathogenic MEFV mutations, and to compare the performance of these two groups using Tel-Hashomer, Livneh, and paediatric diagnostic criteria. Those with familial Mediterranean fever who were heterozygous or homozygous for the E148Q variation, as well as patients with homozygous mutations, had their demographic and clinical data gathered retrospectively. Three diagnostic criteria were used in all cases. E148Q mutation was found in 128 individuals, 112 of whom were heterozygous and 16 of whom were homozygous. Group 2 included 430 patients, 372 of whom were homozygous for the M694V mutation, 50 of whom were homozygous for the M680I mutation, 5 of whom were homozygous for the V726A mutation, and 3 of whom were homozygous for the M694I mutation. Pleuritis, arthritis, recurring fever, erysipelas-like erythema, and anaemia were far more prevalent in group 2 than in group 1. Group 2 had substantially higher moderate and severe Pras ratings. C-reactive protein, erythrocyte sedimentation rate, and serum amyloid A levels were substantially greater in group 2 than in group 1 during attack-free periods. In group 2, the percentage of children identified using Tel-Hashomer and paediatric criteria was substantially greater than in group 1. According to the Livneh criterion, both groups have comparable diagnostic usefulness.
Children with the E148Q variation satisfied all three diagnostic criteria and had a milder illness history, both clinically and in the laboratory.
