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.
