A retrospective evaluation of children with familial mediterranean fever in the province of Gaziantep and the surrounding area

Objective: Familial Mediterranean fever (FMF) is one of the most common hereditary inflammatory diseases, frequently seen in Mediterranean Region. It is also common in Turkey. In this study, we retrospectively investigated the FMF profile of children living in the Gaziantep province and surrounding area. Patients and Methods: Three hundred two children, followed between 2009-2013, and diagnosed as FMF with a known genetic mutation and/or receiving colchicine therapy were included to study. The charts of patients were analyzed retrospectively. Age, height and weight during admission, gender, family history, symptoms and physical examination findings, laboratory results, MEFV gene mutation analysis results, abdominal ultrasonography and echocardiography reports, the signs and symptoms during follow-up, and treatment information were noted. Results: A hundred fifty seven of 302 patients were females (52%), and 145 were males. The average age at diagnosis was 94 ± 42 months, while the age of onset of complaints was 73 ± 40 months. The most common complaints were abdominal pain (90.3%), fever (69.0%) and arthralgia (42.3%), followed by chest pain (15.5%), headache (13.4%) and arthritis (10.0%). FMF often accompanied by gastritis and / or duodenitis (6.8%), juvenile idiopathic arthritis (3.4%), Henoch-Schonlein purpura (2.7%) and urinary tract infection (2.7%) .The most common mutant alleles were M694V (42.6%), E148Q (22.3%), M680 (10.2%), and V726A (9.3%) . Most of the mutations were heterozygous mutations (48.3%) and 8.6% of patients did not have any mutation. The most common homozygous mutation was M694V (71.4%), the most common heterozygous mutation was E148Q (37.7%), and the most common compound heterozygous mutation was M694V/E148Q (20%). There was a statisticaly significant relationship between the presence of arthritis and a homozygous mutation (p = 0.001), and the M694V mutation (p = 0.004). It has been observed that symptoms began at an earlier age (p = 0.009) in patients with M694V mutation, and these patients diagnosed at an earlier age (p = 0.01). There was a statistically significant relationship between anemia and the M694V mutation (p = 0.012), while splenomegaly was related to the presence of a homozygous mutation (p = 0.001). The most common abnormal abdominal ultrasonography finding was splenomegaly (12.3%), and the most common abnormal echocardiographic finding was mitral regurgitation (10.8%). Complete remission was achieved with colchicine treatment in a short time in 43.4% of patients. Conclusion: Distribution of MEFV gene mutation in FMF may vary by region. Complaints of patients may differ according to the type of mutation and genetic transmission, so the diagnosis age may be different. Early diagnosis and appropriate treatment should be essential to prevent amyloidosis.