Recurrences develop in up to 20-50% of patients with acute pericarditis. 
Although different causes of recurrent pericarditis have been identified, the 
etiology remains obscure in most cases which are therefore labelled as 
idiopathic. Autoinflammatory syndromes include familial Mediterranean fever 
(FMF), due to mutations in the MEFV gene, and tumor necrosis factor 
receptor-associated periodic syndrome (TRAPS), due to mutations in the TNFRSF1A 
gene. Recurrent pericarditis is a common feature of both conditions, but it 
rarely occurs alone. Colchicine is the standard treatment for FMF, while 
patients with TRAPS do not respond to colchicine therapy, but are responsive to 
corticosteroids. Based on the proven efficacy of colchicine in preventing 
polyserositis in FMF, colchicine has been proposed for the treatment of 
recurrent pericarditis and is able to decrease the recurrence rate. Our aim was 
to investigate the possible involvement of TNFRSF1A mutations in a group of 
patients with idiopathic recurrent pericarditis who were refractory to 
colchicine treatment. Thirty consecutive patients (17 males, 13 females) 
diagnosed with idiopathic recurrent pericarditis, who were characterized by a 
poor response to colchicine treatment, were enrolled in the study. Mutations of 
the TNFRSF1A gene were searched for by amplifying, using polymerase chain 
reaction (PCR), genomic DNA, and direct sequencing. TNFRSF1A mutations were 
found in 4 of the 30 patients. None of these 4 patients had a family history of 
recurrent inflammatory syndromes or history of pericarditis. One of the 4 
patients had a novel heterozygous deletion (DeltaY103-R104) and three patients 
carried a heterozygous low-penetrance R92Q mutation. Our data suggest that TRAPS 
should be kept in mind in the differential diagnosis of recurrent pericarditis, 
and mutation analysis of the TNFRSF1A gene should be considered, in addition to 
MEFV analysis, in patients of Mediterranean origin. A poor response to 
colchicine treatment and/or a steroid-dependence may be the clue to investigate 
TNFRSF1A mutations in patients with idiopathic recurrent pericarditis.