PMID- 22311714 OWN - NLM STAT- MEDLINE DCOM- 20121029 LR - 20211021 IS - 1861-0692 (Electronic) IS - 1861-0684 (Linking) VI - 101 IP - 7 DP - 2012 Jul TI - Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. PG - 525-31 LID - 10.1007/s00392-012-0422-8 [doi] 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. FAU - Cantarini, Luca AU - Cantarini L AD - Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Italy. cantariniluca@hotmail.com FAU - Lucherini, Orso Maria AU - Lucherini OM FAU - Brucato, Antonio AU - Brucato A FAU - Barone, Luca AU - Barone L FAU - Cumetti, Davide AU - Cumetti D FAU - Iacoponi, Francesca AU - Iacoponi F FAU - Rigante, Donato AU - Rigante D FAU - Brambilla, Giovanni AU - Brambilla G FAU - Penco, Silvana AU - Penco S FAU - Brizi, Maria Giuseppina AU - Brizi MG FAU - Patrosso, Maria Cristina AU - Patrosso MC FAU - Valesini, Guido AU - Valesini G FAU - Frediani, Bruno AU - Frediani B FAU - Galeazzi, Mauro AU - Galeazzi M FAU - Cimaz, Rolando AU - Cimaz R FAU - Paolazzi, Giuseppe AU - Paolazzi G FAU - Vitale, Antonio AU - Vitale A FAU - Imazio, Massimo AU - Imazio M LA - eng PT - Journal Article PT - Multicenter Study DEP - 20120205 PL - Germany TA - Clin Res Cardiol JT - Clinical research in cardiology : official journal of the German Cardiac Society JID - 101264123 RN - 0 (Adrenal Cortex Hormones) RN - 0 (Anti-Inflammatory Agents, Non-Steroidal) RN - 0 (Immunosuppressive Agents) RN - 0 (Receptors, Tumor Necrosis Factor, Type I) RN - 0 (TNFRSF1A protein, human) RN - SML2Y3J35T (Colchicine) RN - Periodic fever, familial, autosomal dominant SB - IM MH - Acute Disease MH - Adrenal Cortex Hormones/therapeutic use MH - Adult MH - Anti-Inflammatory Agents, Non-Steroidal/therapeutic use MH - Colchicine/therapeutic use MH - DNA Mutational Analysis MH - Female MH - Fever MH - Gene Frequency MH - Genetic Predisposition to Disease MH - Hereditary Autoinflammatory Diseases/complications/*diagnosis/drug therapy/genetics/immunology MH - Humans MH - Immunosuppressive Agents/therapeutic use MH - Italy MH - Male MH - Middle Aged MH - *Mutation MH - Odds Ratio MH - Pedigree MH - Pericarditis/drug therapy/*genetics/immunology MH - Phenotype MH - Prospective Studies MH - Receptors, Tumor Necrosis Factor, Type I/*genetics MH - Recurrence MH - Risk Assessment MH - Risk Factors EDAT- 2012/02/09 06:00 MHDA- 2012/10/30 06:00 CRDT- 2012/02/08 06:00 PHST- 2011/07/30 00:00 [received] PHST- 2012/01/26 00:00 [accepted] PHST- 2012/02/08 06:00 [entrez] PHST- 2012/02/09 06:00 [pubmed] PHST- 2012/10/30 06:00 [medline] AID - 10.1007/s00392-012-0422-8 [doi] PST - ppublish SO - Clin Res Cardiol. 2012 Jul;101(7):525-31. doi: 10.1007/s00392-012-0422-8. Epub 2012 Feb 5.