Clinical, Laboratory And Epidemiological Characteristics Of Familial Mediterranean Fever In Childhood And The Relationship Between These Features With Genetic Mutations

Familial Mediterranean Fever (FMF) is characterized by attacks and inflammation of serous membranes. After discovery of MEVF mutations, several studies have been carried out about the effect of genotype to phenotype, a number of them showed relationship between genotype and phenotype, but some of them not. The aim of our study was to investigate the relationship between genotype and clinical features in children with FMF. This study was performed with 131 patients who have FMF diagnosis. The demographic data, clinical findings, mutations were investigated retrospectively. 52.7% of our patients were boys, 47.3% were girls. Distribution of the age of diagnosed was different from age of onset of symptoms (p=0.00). The most frequent symptom was abdominal pain (94.7%) and it is followed by fever (91.6%), arthralgia (65.6%) and chest pain (27.5%). Infection, stress, menstruation and physical training triggered the attack in some patients. Respectively, the most common mutations were M694V (50.4%), M680I (26.7%) and 148Q (11.5%). No mutation was detected in 14.5% of our patients. Nausea and vomiting were less in M694V homozygous patients, and arthralgia was higher in E148Q heterozygous patients (p<0.05). We had 3 patients with colchicine-resistant who were siblings. In our study, a significant relationship between phenotype and genotype was not observed. It is difficult to recognize the disease in infancy period, FMF should be considered in patients with frequently admitted to hospital in order to avoid complications.