Arthritis & Rheumatism, Volume 63,
November 2011 Abstract Supplement
Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Chicago, Illinois November 4-9, 2011.
TNFRSF1A and MFEV Mutations in Idiopathic Recurrent Acute Pericarditis.
Geri1, Guillaume, Hausfater2, Pierre, Dode3, Catherine, Costedoat-Chalumeau1, Nathalie, Amoura1, Zahir, Piette1, Jean-Charles, Sene1, Damien
CHU Pitié-Salpêtrière, Paris, France
Department of Emergency, CHU Pitié Salpetriere, 4783 Boulevard de l'hôpital, 75651 Paris cedex 13 France, Paris, France
Biochemistry and Molecular Genetic, CHU Cochin, rue du Faubourg Saint Jacques, 75014 Paris, France, Paris, France
Department of Internal Medicine and Laboratory I3 "Immunology, Immunopathology, Immunotherapy", UMR CNRS 7211, INSERM U959, Groupe Hospitalier Pitié-Salpetrière, Université Pierre et Marie Curie, Paris 6, Paris
Recurrent acute pericarditis (RAP) is the most common complication of acute pericarditis. The etiological search is often inconclusive and up to 85% of RAP are idiopathic. Serosal membrane inflammation is a common feature of hereditary periodic fever syndromes (HPFS) such as Familial Mediterranean Fever (FMF) and tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS). Genetic biomarkers of HPFS are helpful, i.e. mutations of MFEV for FMF and TNFRSF1A for TRAPS. We aimed at assessing the prevalence of HPFS genetic markers in idiopathic RAP.
Consecutive patients with idiopathic RAP, defined as > 2 episodes of pericarditis and a negative check-up, from a French tertiary hospital were included. Mutations of MFEV and TNFRSF1A were searched for by amplifying (PCR) genomic DNA and direct sequencing. Epidemiological, clinical and biological features, and therapeutic response were compared in RAP patients presenting with and without HPFS mutations.
81 patients (mean age at first RAP diagnosis 41.6±18 years; F/M sex ratio 0.44) were included, 45 (55.6%) patients were European and 6 (7.4%) North African. A familial history of pericarditis was noted in one case. The mean number of RAP episodes per patient was 4.0±2.5. An increase of inflammation biomarkers was evidenced in 30/81 (37.0%) patients. RAP was associated with extra-cardiac symptoms in 30 (37.0%) patients, mainly pleural effusion (n=12) and joint involvement (n=8).
A MFEV mutation was evidenced in 6/39 (15.4%) patients, i.e. heterozygous M694V (n=2), heterozygous M694I (n=1) and heterozygous E148Q (n=3). A TNFRSF1A mutation was evidenced in 6/38 (15.8%) patients, i.e. heterozygous R92Q (n=4), heterozygous P46L (n=1) and homozygous R92Q (n=1). None patient had a mutation on both TNFRSF1A and MFEV.
Before colchicine treatment, patients with compared to those without HPFS mutations had a higher number of RAP episodes (4.8±3.5 vs. 4.0±1.7; p=0.95). After colchicine treatment, a PAR relapse was evidenced more frequently in patients with compared to those without HPFS mutation [5/12 (41.7%) vs. 4/27 (20%); p=0.10].
Patients with "idiopathic" recurrent acute pericarditis showed high prevalence of hereditary periodic fever syndrome genetic mutations. A higher frequency of pericarditis relapse seems to be associated with the presence of such mutations.
To cite this abstract, please use the following information:
Geri, Guillaume, Hausfater, Pierre, Dode, Catherine, Costedoat-Chalumeau, Nathalie, Amoura, Zahir, Piette, Jean-Charles, et al; TNFRSF1A and MFEV Mutations in Idiopathic Recurrent Acute Pericarditis. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :2450