Demographic, Clinical and Genetic Features of the Patients with Familial Mediterranean Fever

Karakayali A., Erten Ş. , Akan S., Altunoglu A., Erzurum C., Ceylan G. G. , ...More

JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE, vol.8, no.1, pp.1-5, 2017 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.4328/jcam.4534
  • Page Numbers: pp.1-5


Aim: This study aims to analyze the demographic, clinical and genetic features ofthe patients with familial Mediterranean fever (FMF). Material and Method: A total of 150 patients (96 men and 54 women) with FMF were included to this study. Demographic characteristics, clinical findings, and genotypic features of the patients were statistically evaluated. Results: Percentages of male and female subjects were64% and36%, respectively. The most common clinical finding in both sexeswasabdominal pain. Amyloidosis was determined in 3patients (2%), and all of them were men. The most common mutation observed in thepatients was M694V (n= 153, 51%). Mutation analyseswere negative in 7 (4.6%) patients. M694V/M694Vwas the most common genotype. In the patients with homozygous M694V mutation, amyloidosis (p< 0.001) and abdominal pain (p= 0.04) were the most frequently encountered clinical finding. Almost all of the patients (n= 146, 97.3%) treated with colchicine. Discussion: In the present study, amyloidosis and abdominal pain were found to be significantly more frequent in patients with homozygous M694V mutation. There was, however, a significant delay of 9 yearsin diagnosis of FMF.