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

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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.

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Authors and Affiliations

  1. Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100, Siena, Italy

    Luca Cantarini, Maria Giuseppina Brizi, Bruno Frediani, Mauro Galeazzi & Antonio Vitale

  2. Department of Evolutionary Biology, University of Siena, Siena, Italy

    Orso Maria Lucherini

  3. Department of Internal Medicine, Ospedali Riuniti di Bergamo, Bergamo, Italy

    Antonio Brucato, Davide Cumetti & Giovanni Brambilla

  4. Department of Medical Genetics, Clinical Chemistry and Clinical Pathology Laboratory, Niguarda Ca’ Granda Hospital, Milan, Italy

    Luca Barone, Silvana Penco & Maria Cristina Patrosso

  5. Department of Biomedical Science, University of Siena, Siena, Italy

    Francesca Iacoponi

  6. Department of Pediatric Sciences, Catholic University of the Sacred Heart, Rome, Italy

    Donato Rigante

  7. Dipartimento di Medicina Interna e Specialità Mediche, Rheumatology Unit, Università “La Sapienza”, Rome, Italy

    Guido Valesini

  8. Department of Pediatrics, Rheumatology Unit, Anna Meyer Children’s Hospital and University of Florence, Florence, Italy

    Rolando Cimaz

  9. Department of Rheumatology, S. Chiara Hospital, Trento, Italy

    Giuseppe Paolazzi

  10. Cardiology Department, Ospedale Maria Vittoria, Turin, Italy

    Massimo Imazio

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  1. Luca Cantarini
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  2. Orso Maria Lucherini
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  3. Antonio Brucato
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  8. Giovanni Brambilla
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  9. Silvana Penco
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  10. Maria Giuseppina Brizi
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  13. Bruno Frediani
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  14. Mauro Galeazzi
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  15. Rolando Cimaz
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  17. Antonio Vitale
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  18. Massimo Imazio
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Correspondence to Luca Cantarini.

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Cantarini, L., Lucherini, O.M., Brucato, A. et al. Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. Clin Res Cardiol 101, 525–531 (2012). https://doi.org/10.1007/s00392-012-0422-8

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  • DOI: https://doi.org/10.1007/s00392-012-0422-8

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