T. Karatsourakis, K. Oikonomaki, A. Tzioufas, H. Moutsopoulos
Department of Pathophysiology, School of Medicine, University of Athens, Athens 11527, Greece. email@example.com
2014 Vol.32, N°4 ,Suppl.84 - PI 0045, PF 0048
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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.
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.
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.
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.
PMID: 24708999 [PubMed]
Received: 01/09/2013 - Accepted : 05/12/2013 - In Press: 07/04/2014 - Published: 30/09/2014