Volume 13 Supplement 1

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Open Access

Neonatal onset Familial Mediterranean Fever

  • ZB Özçakar1,
  • S Şahin-Kunt1,
  • S Özdel1 and
  • F Yalçınkaya1
Pediatric Rheumatology201513(Suppl 1):P79

https://doi.org/10.1186/1546-0096-13-S1-P79

Published: 28 September 2015

Question

Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterised by recurrent, self limited attacks of fever with serositis. Recently it was shown that FMF patients with early disease onset have more severe disease. The aim of our study was to describe the demographic, clinical and genetic features of FMF patients who had disease onset at the neonatal period.

Methods

Files of patients who had been seen in our department (during routine follow-up visits) between January 2013 and January 2014 were retrospectively evaluated. Patients with disease onset during the neonatal period were included to the study.

Results

Among 317 patients; 18 (7 females, 11 males) were enrolled. Consanguinity and family history of FMF were present in 28% and 56% of the patients, respectively. Clinical features seemed to be similar to general FMF patients; however, 50% of the patients were fussy children. The diagnosis of FMF was significantly delayed; the mean age at onset of therapy was 65.44 + 43.75 months. 38% of the patients had homozygous M694V mutation.

Conclusions

Patients with FMF could have complaints even in the neonatal period. The smaller the age of disease onset, the more likely their diagnoses are delayed. Homozygous M694V mutation is a prominent mutation in this group of patients.

Authors’ Affiliations

(1)
Ankara University, Pediatric Rheumatology

Copyright

© Özçakar et al. 2015

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 (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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