ABSTRACT

Familial Mediterranean fever (FMF) is an autosomal recessive disease and clinically characterized by periodic abdominal pain, fever, arthralgia/arthritis and skin lessions. The prevalence of FMF is higher in Turks, Armenians, Arabs, and Sephardic Jews. Wide variety of mutations have been described in pyrin gene which is known to be responsible from FMF. In this study, 4 frequent mutations in pyrin gene (E148Q, M680I, M694V and V726A) have been screened in the patients in whom was considered FMF and results were compared with classical data and symptoms.

In this study, 110 patients who attended to our clinic with periodic abdominal pain, fever and arthralgia/arthritis were included. Mutation analyses of pyrin gene were carried out with ProntoTM FMF Basic Kit. As a result, in 68 patients (mean age 25.5 years), heterozygous/homozygous mutations have been detected. In 51 patients mutation M694V (16 of them were homozygous), in 23 patients mutation M680I (4 of them were homozygous), in 12 patients mutation V726A (1 of them was homozygous) and in 4 patients mutation E148Q were observed. In twentytwo patients two mutations in their pyrin gene were detected and by considering clinical manifestations, these patients were accepted as a compound heterozygous.

As a result, M694V mutation has been detected in most of our patients as reported from other studies in Turkish population. At least one mutation was found in 76 % of all our patients. In addition, out of the patients with mutations, 16 had chest pain and 50 % of these patients had M680I mutation (2 of these patients were homozygous). M694V mutation have been detected in 22 out of 24 patients with arthritis and notifiablely 11 of them were homozygous for the same mutation.