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


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

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

  • Publication Type: Article / Article
  • Volume: 8 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.4328/jcam.4534
  • Journal Name: JOURNAL OF CLINICAL AND ANALYTICAL MEDICINE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
  • Page Numbers: pp.1-5
  • Ankara Yıldırım Beyazıt University Affiliated: No

Abstract

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.