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Clinical and demographic characteristics of children with familial mediterranean fever in Central Anatolia

  • 1Email author,
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Pediatric Rheumatology20119 (Suppl 1) :P11

  • Published:


  • Arthritis
  • Proteinuria
  • Amyloidosis
  • Familial Mediterranean Fever
  • Restriction Endonuclease Digestion


This study investigates the clinical and demographic characteristics of Turkish familial Mediterranean fever (FMF) patients and relationship between these characteristics and genotype.


115 girls and 143 boys were included in this study. The clinical data of patients were collected from six centers. Genetic analysis was performed using polymerase chain reaction and restriction endonuclease digestion methods to detect the presence of eight FMF gene mutations.


The mean age of disease onset was 5.1 ± 3.6 years and the mean age at diagnosis was 7.3 ±3.1 years. The mean number of attacks per year was 7.7 ± 7.8, the mean duration of attacks 1.7 ± 1.6 days. The most common clinical manifestations were fever (91.6%) and abdominal pain (90.3%). The other manifestations were arthralgia (44.1%), arthritis (18.6%), headache (17.3%), myalgia (15.6%), vomiting (11%), chest pain (6.8%), splenomegaly (5.5%), diarrhea (5.5%) and erisipelas like eritema (3.4%). Amyloidosis (1.8%) and proteinuria (1.8%) were also determined. Most of patients had compound heterozygote genotype (n=86, 28.6%) and the most common homozygote mutation was M694V homozygosity (n=65, %21.6). The frequency of headache in the patients with homozygote M694V mutation (n=18, %29.5) and the frequencies of arthritis in patients with homozygote E148Q (n=1, %33.3) and M694V mutations (n=16, %26.2) were significantly higher than the patients with other mutations (p<0.05, for all of them).


The results of this study supported the hypothesis that mutation types seem to determine the susceptibility to some clinical features development. With the determination of new mutations, further studies are warranted to investigate relationship between genotype and phenotype in larger populations.

Authors’ Affiliations

Pediatric Nephrology & Rheumatology Unit, Gülhane Military Medical Academy, Ankara, Turkey
Pediatric Nephrology & Rheumatology Unit, Hacettepe University Medical School, Ankara, Turkey
Department of Medical Genetic, Gulhane Military Medical Faculty, Ankara, Turkey
Department of Public Health, Division of Epidemiology, Gulhane Military Medical Faculty, Ankara, Turkey
Paediatric Nephrology & Rheumatology Unit, Selcuklu University, Konya, Turkey
Pediatric Nephrology & Rheumatology Unit, Ege University Medical School, İzmir, Turkey
Kayseri Education and Research Hospital, Kayseri, Turkey
Pediatric Nephrology & Rheumatology Unit, Erciyes University Medical School, Kayseri, Turkey


© Akin et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.