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Familial Mediterranean fever in Syrian children: phenotype–genotype correlation

  • Original Article - Genes and Disease
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Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serosal membranes. In this study, 103 unrelated Syrian children were included. Mutation screening of the MEditerranean FeVer gene was performed for 12 mutations. Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch–Schonlein purpura in 1 (0.97 %). The most frequent mutation was M694V. In order to determine the association between M694V and clinical features of FMF, we compared the disease features between patients with and without this mutation. The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation.

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Acknowledgments

We would like to thank Miss Reem Doudaky for technical assistance. We would also like to thank Prof. Ibrahim Othman, the Director General of the Atomic Energy Commission of Syria, and Dr. Nizar MirAli, Head of Department, for their support. We are grateful to Drs George Saour and Mohamad Tlas for help with statistical analysis. This project was financially supported by the Atomic Energy Commission of Syria.

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Authors and Affiliations

  1. Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS), P.O.Box 6091, Damascus, Syria

    Rami A. Jarjour & Sumaya Al-Berrawi

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  1. Rami A. Jarjour
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  2. Sumaya Al-Berrawi
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Correspondence to Rami A. Jarjour.

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Jarjour, R.A., Al-Berrawi, S. Familial Mediterranean fever in Syrian children: phenotype–genotype correlation. Rheumatol Int 35, 629–634 (2015). https://doi.org/10.1007/s00296-014-3116-x

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  • DOI: https://doi.org/10.1007/s00296-014-3116-x

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