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Objectives: The aim of the study was to evaluate the clinical and epidemiological features of the children with the diagnosis of FMF. Also these features were compared with the commonly seen mutations and their relationships with the disease severity scores were studied.
Methods: The clinical and epidemiological features of 158 children followed by the pediatrics unit were evaluated. The diagnosis was made according to the Tell-Hashomer criteria. The commonest 3 mutations were studied in 123 of the children. In 22 patients no mutations were studied. For the rest either 5 common mutations or full genetic analysis of the MEFV gene were performed. For every patient a clinical and epidemiological data related file was reported. Laboratory datas of the patients were also collected for the evaluation of the inflammatory response.
Results: A total of 158 children were included to the study. Of these patients 83 (52.5%) were females and 75 (47.5%) were males. Mean age of the children was 128.14±42.48 months (48-222 months). The age of onset was 4.23±3.08 years (1-16 years). Familial consanguity was present in 31% of the patients. The presence of FMF in family members were found in 52.9% of the cases. The most common clinical findings were abdominal pain (94.9%), chest pain (65.2%), arthritis (55.1%) and erysipelas like erythema (46.8%). In 52.5% of the patients attacks were seen 1-2 times in a month and the duration of the attacks were between 48 and 72 hours in 33.5% of the patients. The severity score was found to be mild in 4%, moderate in 82% and severe in 14%. There was a correlation between the severity score and hepatosplenomegaly. At 25.9% of the patients there were leukocytosis and at all there were increased sedimentation rates during the attacks. There was a significant increase of the hemoglobin values of the patients after a regular treatment with colchicine. Total response to colchicine was seen in 60.8% and partial response was seen in 39.2%. None of the patients were accepted as unresponsive. The disease severity score was significantly higher among females. The commonest mutation was M694V/M694V (57.7%). One of the patients had E148Q/S647T genotype and according to our knowledge S647T was the first mutation defined by our study. The genotype and fenotype relations were evaluated according to the most common 3 mutations (M694V, M680I, V726A). Patients who were homozygous for M694V mutation had the most severe score of the disease and highest sedimentation rate values. Arthritis and erysipelas like erythema was significantly high among patients homozygous for M694V mutation. Although common in Turkey in 20.7% of the patients misdiagnosis of rheumatic fever had been made before admission to us.