Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study.
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).


CONCLUSIONS
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.
Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Italy. cantariniluca@hotmail.com
Luca
L
Cantarini
Orso Maria
OM
Lucherini
Antonio
A
Brucato
Luca
L
Barone
Davide
D
Cumetti
Francesca
F
Iacoponi
Donato
D
Rigante
Giovanni
G
Brambilla
Silvana
S
Penco
Maria Giuseppina
MG
Brizi
Maria Cristina
MC
Patrosso
Guido
G
Valesini
Bruno
B
Frediani
Mauro
M
Galeazzi
Rolando
R
Cimaz
Giuseppe
G
Paolazzi
Antonio
A
Vitale
Massimo
M
Imazio
D000208:Acute Disease; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D003078:Colchicine / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005260:Female; D005334:Fever; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010375:Pedigree; D010493:Pericarditis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D010641:Phenotype; D011446:Prospective Studies; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012008:Recurrence; D018570:Risk Assessment; D012307:Risk Factors
D000305:Adrenal Cortex Hormones; D000894:Anti-Inflammatory Agents, Non-Steroidal; D007166:Immunosuppressive Agents; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D003078:Colchicine