Association of Clinical and Genetic Features in Familial Mediterranean Fever Among Children from Central Anatolia, Turkey

Abstract

The aim of the present study was to perform a genotype/phenotype and gender correlation in children in addition to investigate distribution and frequency of the Mediterranean fever gene mutations. Records of 700 children with familial Mediterranean fever living in Sivas-Central Anatolia were retrospectively reviewed. Most common clinical features were fever (100 %), abdominal pain (92.7 %), and arthritis (23.3 %). Mutations were detected in 66.7 % of patients. Simple heterozygous, compound heterozygous, and homozygous mutations were detected respectively 66.4, 8.6 and 25 % of patients. The most frequent mutations were M694V, E148Q, M680I (G/C), V726A, and A744S. The mean severity score was higher in homozygous M694V, in heterozygous M694V and in heterozygous E148Q mutations than in others. It was higher in girls than in boys. Arthritis and abdominal pain had a meaningful relation with M694V and E148Q mutations. Appendectomy and rare complications (oral aphthae, scrotal edema, Henoch Schönlein purpura, and amyloidosis) were significantly seen more in M694V and in E148Q than in other mutations. High acute phase reactant response was highest in M694V and in E148Q. Ten patients had amyloidosis and 4 of them had recurrent Henoch Schönlein purpura. This study showed that, in addition to patients with M694V mutations, patients with E148Q mutations also had a more severe clinical course. Apart from that, disease severity score was higher in girls than in boys and the co-existence of Henoch Schönlein purpura and familial Mediterranean fever is significant. © 2014, The National Academy of Sciences, India.