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.