Periodic fevers in adult Greeks: clinical and molecular presentation.
OBJECTIVE
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.
Department of Pathophysiology, School of Medicine, University of Athens, Athens 11527, Greece. karatsourakis@yahoo.gr.
Theofilos P
TP
Karatsourakis
Katerina N
KN
Oikonomaki
Athanasios G
AG
Tzioufas
Haralampos M
HM
Moutsopoulos
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006115:Greece; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D055815:Young Adult
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase