JOURNAL ARTICLE
MULTICENTER STUDY

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
Clinical Research in Cardiology: Official Journal of the German Cardiac Society 2012, 101 (7): 525-31
22311714

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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