Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome.
OBJECTIVE
Although several causes of recurrent pericarditis have been identified, the etiology remains obscure in most cases. The tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS) is the most common autosomal dominant autoinflammatory disorder and is caused by mutations in the TNFRSF1A gene encoding the 55-kD receptor for tumour necrosis factor-(TNF)-alpha. Serosal membrane inflammation is a common feature of TRAPS, usually in the form of polyserositis. In addition, patients affected with recurrent pericarditis as the only clinical manifestation of TRAPS have been recently described. Our aim was to investigate the possible involvement of mutations in the TNFRSF1A gene in a cohort of patients affected with idiopathic recurrent pericarditis.


METHODS
Twenty consecutive patients diagnosed with idiopathic recurrent pericarditis were enrolled. Each patient underwent detailed examinations in order to rule out underlying diseases such as infections, connective tissue disorders and malignancies, and mutations of the TNFRSF1A gene were searched for by amplifying, using polymerase chain reaction (PCR), genomic DNA, and direct sequencing.


RESULTS
TNFRSF1A mutations were found in 2 of the 20 patients. They were siblings, and they both carried a heterozygous low-penetrance R92Q mutation in the TNFRSF1A gene.


CONCLUSIONS
Familial clustering has been recently reported in up to 10% of patients with recurrent pericarditis, thus suggesting in some cases a possible genetic predisposition. Our study suggests that familial clustering may represent a clue for investigating mutations in the TNFRSF1A gene in these patients and eventually disclose TRAPS.
Cantarini
Luca
L
Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy. cantariniluca@hotmail.com
Lucherini
Orso Maria
OM
Baldari
Cosima Tatiana
CT
Laghi Pasini
Franco
F
Galeazzi
Mauro
M
D000328:Adult; D017668:Age of Onset; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D019683:Penetrance; D010493:Pericarditis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012008:Recurrence; D055815:Young Adult
D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human