Periodic fevers in adult Greeks: clinical and molecular presentation

CER6933
2014 Vol.32, N°4 ,Suppl.84
PI 0045, PF 0048
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PMID: 24708999 [PubMed]

Received: 01/09/2013
Accepted : 05/12/2013
In Press: 07/04/2014
Published: 30/09/2014

Abstract

OBJECTIVES:
Hereditary periodic fever syndromes (HPFS) are rare diseases characterised by recurrent, self-limited episodes of fever and localised inflammation, which arise from monogenic defects. In the present study we describe the clinical features, laboratory parameters and genetic profile of adult patients.
METHODS:
Samples examined between May 2010 and December 2012 at the laboratory of genetic molecular diagnosis of the department of Pathophysiology of School of Medicine, National University of Athens.
RESULTS:
Of the MEFV gene variants the most frequent genotype was the E148Q heterozygosity, with patients presenting with the typical clinical picture, two patients were positive for the pR92Q/c.362G>A mutation in heterozygosity. The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with the corresponding typical picture and the testing for the CAPS syndromes was positive for a new mutation, pR170H/c.509G>A in heterozygosity, in a case with less typical clinical features.
CONCLUSIONS:
Availability of genetic testing in everyday clinical practice can provide valuable information regarding the clinical diversity, geographic distribution and genetic characteristics of these rare disease in all age groups.