Internal and Emergency Medicine

, Volume 12, Issue 5, pp 605–611 | Cite as

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

  • Antonio Vitale
  • Donato Rigante
  • Orso Maria Lucherini
  • Anna De Palma
  • Ida Orlando
  • Stefano Gentileschi
  • Jurgen Sota
  • Antonella Simpatico
  • Claudia Fabiani
  • Mauro Galeazzi
  • Bruno Frediani
  • Luca CantariniEmail author


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.


Autoinflammatory diseases Hereditary periodic fever syndromes Diagnosis Adulthood Clinical manifestations 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Statement of human and animal rights

All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

For this type of study formal consent was not required.


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Copyright information

© SIMI 2017

Authors and Affiliations

  • Antonio Vitale
    • 1
  • Donato Rigante
    • 2
  • Orso Maria Lucherini
    • 1
  • Anna De Palma
    • 1
  • Ida Orlando
    • 1
  • Stefano Gentileschi
    • 1
  • Jurgen Sota
    • 1
  • Antonella Simpatico
    • 1
  • Claudia Fabiani
    • 3
  • Mauro Galeazzi
    • 1
  • Bruno Frediani
    • 1
  • Luca Cantarini
    • 1
    • 4
    Email author
  1. 1.Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease Clinic, Department of Medical Sciences, Surgery and NeurosciencesUniversity of SienaSienaItaly
  2. 2.Institute of PediatricsUniversità Cattolica Sacro Cuore, Fondazione Policlinico Universitario “A. Gemelli”RomeItaly
  3. 3.Department of OphthalmologyHumanitas Clinical and Research HospitalMilanItaly
  4. 4.Rheumatology UnitPoliclinico “Le Scotte”, University of SienaSienaItaly

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