The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy

The study aims are to describe the activity of our Unit on the diagnostics of monogenic autoinflammatory diseases (AIDs), and to apply the clinical classification criteria for periodic fevers from the Eurofever Registry to our cohort of patients, thus evaluating their usefulness in the real life. We retrospectively analyzed data from patients referring to our Center for recurrent fever attacks, and undergoing genetic analysis between April 2014 and July 2016, and we applied the classification criteria to both genetically positive and -negative patients. We visited 195 patients (101 females, 94 males); 126 (64.6%) were adults and 192 (98.5%) Caucasians; 12.3% carried mutations and 12.7% of adults were genetically positive. No statistically significant differences were identified in the frequency of genetic diagnosis between adults and children (p = 0.82) as well as in the frequency of genetic diagnosis, based on the number of genes evaluated (p = 0.57). When we applied the Eurofever criteria, 126/195 (64.6%) patients were classified for at least one among the four main monogenic AIDs; 22 (11.3%) patients fulfilled criteria for 2 diseases and 4 (2.1%) for 3 diseases. Among patients carrying mutations, 12/24 (50%) correctly fulfilled the score, 3/24 (12.5%) fulfilled criteria differently from their genetic diagnosis; 9/22 (40.9%) recieved no classification. An expanded genetic testing does not seem useful, while a correct interpretation of patients’ clinical picture may allow performing specific genetic testing. The classification criteria from the Eurofever Registry have shown to be a beneficial tool in the evaluation of patients with a suspected monogenic AID.