Genotype– phenotype Correlation in Patients with Familial Mediterranean Fever: Evaluation of E۱۴۸Q and M۶۹۴V Mutations

Background and Objective: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by self-limited episodes of fevere and painful recurrent polyserositis that predominantly affects Mediterranean races. In recent years some reports have shown high prevalence of FMF in North-west Iran, with M۶۹۴V and E۱۴۸Q being most frequent reported mutations. The aim of this study is to evaluate the clinical manifestations of FMF in patients with these mutations. Materials and Methods: A cross sectional- descriptive study was performed in a ۱ year period (January ۲۰۰۷ – January ۲۰۰۸). ۷۱ patients younger than ۱۸ years with clinical diagnosis of disease proved in Children Hospital of Tabriz-Iran were referred to genetic lab for mutation analysis. ARMS-PCR & PCR-RFLP were used to detect mutations. Only ۴۵ patients were shown to have identified mutations and ۴۱ patients among them had M۶۹۴V and E۱۴۸Q mutations which were assessed for various clinical manifestations. Results: M۶۹۴V and E۱۴۸Q mutations were seen in ۵۵.۷% and ۳۵.۵% patients respectively. Patients homozygous for M۶۹۴V were found to have earlier age of onset, longer duration of attacks, higher prevalence of positive family history and more complications. In our patients, prevalence of some manifestations differed from other ethnic groups reported previously. Conclusions: M۶۹۴V mutation in FMF patients especially in homozygous state is accompanied with more severe disease and more complications.

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Key words: Familial mediterranean fever , Genotype-phenotype correlation , Manifestation , Iran