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BioMed Research International
Volume 2013 (2013), Article ID 501305, 8 pages
http://dx.doi.org/10.1155/2013/501305
Review Article

Clinical Genetic Testing of Periodic Fever Syndromes

1Laboratory of Immunopathology, Institute for Maternal and Child Health (IRCCS) “Burlo Garofolo”, 34137 Trieste, Italy
2Department of Medical Sciences, University of Trieste, 34100 Trieste, Italy

Received 25 October 2012; Accepted 12 December 2012

Academic Editor: Ozgur Cogulu

Copyright © 2013 Annalisa Marcuzzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers’ causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.