Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Abstract

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

Figure 1. Comparison of the groups in terms of mean measurements of the acute-phase reactants. Blood samples were collected every 6 months during the 2 years following diagnosis of familial Mediterranean fever. Data are reported as means±SE. Group 0, no mutation; group 1, homozygous; group 2, compound homozygous; group 3, heterozygous. WBC = white blood cell. One-way analysis of variance and the post hoc Tukey test were used for statistical analyses. *P≤0.05, groups 0, 2, and 3 compared to group 1; ^nsP>0.05, not significant in general, second, third and fourth measurements.