Clinical Research in Cardiology

, Volume 101, Issue 7, pp 525–531

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

  • Luca Cantarini
  • Orso Maria Lucherini
  • Antonio Brucato
  • Luca Barone
  • Davide Cumetti
  • Francesca Iacoponi
  • Donato Rigante
  • Giovanni Brambilla
  • Silvana Penco
  • Maria Giuseppina Brizi
  • Maria Cristina Patrosso
  • Guido Valesini
  • Bruno Frediani
  • Mauro Galeazzi
  • Rolando Cimaz
  • Giuseppe Paolazzi
  • Antonio Vitale
  • Massimo Imazio
Original Paper

DOI: 10.1007/s00392-012-0422-8

Cite this article as:
Cantarini, L., Lucherini, O.M., Brucato, A. et al. Clin Res Cardiol (2012) 101: 525. doi:10.1007/s00392-012-0422-8

Abstract

Background

The potential clinical expression of tumor necrosis factor receptor-associated periodic syndrome (TRAPS), in the form of idiopathic recurrent acute pericarditis (IRAP) has not been explored in the medical literature. The aim of this study was to evaluate the incidence of TRAPS mutations in patients with recurrent pericarditis and identify possible clues to TRAPS diagnosis.

Methods

Therefore, 131 consecutive Caucasian IRAP patients were investigated for mutations of the TRAPS gene and prospectively evaluated.

Results

Out of 131 patients, 8 (6.1%) carried a mutation in the TNFRSF1A gene. Compared with those without genetic mutations, patients with TRAPS mutations had more frequently a positive family history for pericarditis and periodic fever syndromes (p < 0.001), a higher mean number of recurrences after the first year (p < 0.001), on colchicine treatment (p < 0.001), and a higher need of immunosuppressive therapies (p < 0.001).

Conclusion

TRAPS is a cause of recurrent pericarditis in 6% of unselected cases with recurrent pericarditis. A positive family history for pericarditis or periodic fever syndromes, a poor response to colchicine, recurrences after the first year from the index attack or on colchicine treatment, as well as the need of immunosuppressive agents are clues of the possible presence of TNFRSF1A gene mutations in patients with recurrent pericarditis.

Keywords

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) TNFRSF1A gene mutations Autoinflammatory disease Idiopathic recurrent acute pericarditis 

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Luca Cantarini
    • 1
  • Orso Maria Lucherini
    • 2
  • Antonio Brucato
    • 3
  • Luca Barone
    • 4
  • Davide Cumetti
    • 3
  • Francesca Iacoponi
    • 5
  • Donato Rigante
    • 6
  • Giovanni Brambilla
    • 3
  • Silvana Penco
    • 4
  • Maria Giuseppina Brizi
    • 1
  • Maria Cristina Patrosso
    • 4
  • Guido Valesini
    • 7
  • Bruno Frediani
    • 1
  • Mauro Galeazzi
    • 1
  • Rolando Cimaz
    • 8
  • Giuseppe Paolazzi
    • 9
  • Antonio Vitale
    • 1
  • Massimo Imazio
    • 10
  1. 1.Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le ScotteUniversity of SienaSienaItaly
  2. 2.Department of Evolutionary BiologyUniversity of SienaSienaItaly
  3. 3.Department of Internal MedicineOspedali Riuniti di BergamoBergamoItaly
  4. 4.Department of Medical Genetics, Clinical Chemistry and Clinical Pathology LaboratoryNiguarda Ca’ Granda HospitalMilanItaly
  5. 5.Department of Biomedical ScienceUniversity of SienaSienaItaly
  6. 6.Department of Pediatric SciencesCatholic University of the Sacred HeartRomeItaly
  7. 7.Dipartimento di Medicina Interna e Specialità Mediche, Rheumatology UnitUniversità “La Sapienza”RomeItaly
  8. 8.Department of Pediatrics, Rheumatology UnitAnna Meyer Children’s Hospital and University of FlorenceFlorenceItaly
  9. 9.Department of RheumatologyS. Chiara HospitalTrentoItaly
  10. 10.Cardiology DepartmentOspedale Maria VittoriaTurinItaly

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