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

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)525-531
Number of pages7
JournalClinical Research in Cardiology
Volume101
Issue number7
DOIs
Publication statusPublished - Jul 2012

Fingerprint

Pericarditis
Multicenter Studies
Mutation
Colchicine
Immunosuppressive Agents
Fever
Genes
Recurrence
Autosomal Dominant Familial Periodic Fever
Therapeutics
Incidence

Keywords

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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis : Results of a multicentre study. / Cantarini, Luca; Lucherini, Orso Maria; Brucato, Antonio; Barone, Luca; Cumetti, Davide; Iacoponi, Francesca; Rigante, Donato; Brambilla, Giovanni; Penco, Silvana; Brizi, Maria Giuseppina; Patrosso, Maria Cristina; Valesini, Guido; Frediani, Bruno; Galeazzi, Mauro; Cimaz, Rolando; Paolazzi, Giuseppe; Vitale, Antonio; Imazio, Massimo.

In: Clinical Research in Cardiology, Vol. 101, No. 7, 07.2012, p. 525-531.

Research output: Contribution to journalArticle

Cantarini, L, Lucherini, OM, Brucato, A, Barone, L, Cumetti, D, Iacoponi, F, Rigante, D, Brambilla, G, Penco, S, Brizi, MG, Patrosso, MC, Valesini, G, Frediani, B, Galeazzi, M, Cimaz, R, Paolazzi, G, Vitale, A & Imazio, M 2012, 'Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: Results of a multicentre study', Clinical Research in Cardiology, vol. 101, no. 7, pp. 525-531. https://doi.org/10.1007/s00392-012-0422-8
Cantarini, Luca ; Lucherini, Orso Maria ; Brucato, Antonio ; Barone, Luca ; Cumetti, Davide ; Iacoponi, Francesca ; Rigante, Donato ; Brambilla, Giovanni ; Penco, Silvana ; Brizi, Maria Giuseppina ; Patrosso, Maria Cristina ; Valesini, Guido ; Frediani, Bruno ; Galeazzi, Mauro ; Cimaz, Rolando ; Paolazzi, Giuseppe ; Vitale, Antonio ; Imazio, Massimo. / Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis : Results of a multicentre study. In: Clinical Research in Cardiology. 2012 ; Vol. 101, No. 7. pp. 525-531.
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title = "Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: Results of a multicentre study",
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 = "Autoinflammatory disease, Idiopathic recurrent acute pericarditis, TNFRSF1A gene mutations, Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)",
author = "Luca Cantarini and Lucherini, {Orso Maria} and Antonio Brucato and Luca Barone and Davide Cumetti and Francesca Iacoponi and Donato Rigante and Giovanni Brambilla and Silvana Penco and Brizi, {Maria Giuseppina} and Patrosso, {Maria Cristina} and Guido Valesini and Bruno Frediani and Mauro Galeazzi and Rolando Cimaz and Giuseppe Paolazzi and Antonio Vitale and Massimo Imazio",
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T1 - Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis

T2 - Results of a multicentre study

AU - Cantarini, Luca

AU - Lucherini, Orso Maria

AU - Brucato, Antonio

AU - Barone, Luca

AU - Cumetti, Davide

AU - Iacoponi, Francesca

AU - Rigante, Donato

AU - Brambilla, Giovanni

AU - Penco, Silvana

AU - Brizi, Maria Giuseppina

AU - Patrosso, Maria Cristina

AU - Valesini, Guido

AU - Frediani, Bruno

AU - Galeazzi, Mauro

AU - Cimaz, Rolando

AU - Paolazzi, Giuseppe

AU - Vitale, Antonio

AU - Imazio, Massimo

PY - 2012/7

Y1 - 2012/7

N2 - 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.

AB - 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.

KW - Autoinflammatory disease

KW - Idiopathic recurrent acute pericarditis

KW - TNFRSF1A gene mutations

KW - Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)

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