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Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients

Department of Medicine, Niguarda Hospital Milano, Italy, antonio.brucato{at}ospedaleniguarda.it

Y Shinar

The Heller Institute for Medical Research, Sheba Medical Center, Tel-Hashomer, Israel

G Brambilla

Department of Medicine, Niguarda Hospital Milano, Italy

L Robbiolo

Department of Medicine, Niguarda Hospital Milano, Italy

G Ferrioli

Department of Immunohematology and Transfusional Medicine, Niguarda Hospital Milano, Italy

M C Patrosso

Medical Genetics Department of Diagnostics, Niguarda Hospital Milano, Italy

D Zanni

Department of Medical Physics, Niguarda Hospital Milano, Italy

S Penco

Medical Genetics Department of Diagnostics, Niguarda Hospital Milano, Italy

E Boiani

Department of Immunohematology and Transfusional Medicine, Niguarda Hospital Milano, Italy

A Ghirardello

Department of Rheumatology, University of Padua, Italy

A LP Caforio

Department of Cardiology, University of Padua, Italy

A Bergantin

Department of Medical Physics, Niguarda Hospital Milano, Italy

V Tombini

Department of Medicine, Niguarda Hospital Milano, Italy

A Moreo

Department of Cardiology, Niguarda Hospital Milano, Italy

L Ashtamkar

The Heller Institute for Medical Research, Sheba Medical Center, Tel-Hashomer, Israel

A Doria

Department of Rheumatology, University of Padua, Italy

Y Shoenfeld

Department of Medicine B, Center For Autoimmune Diseases, Tel-Hashomer, Israel

A Livneh

The Heller Institute for Medical Research, Sheba Medical Center, Tel-Hashomer, Israel

Idiopathic recurrent acute pericarditis (IRAP) is suspected to be an autoimmune phenomenon. We studied 46 consecutive patients. We looked for: 1) the occurrence of new diagnoses of autoimmune diseases during our follow up; 2) HLA typing; and 3) the presence of the most frequent mutations linked to familial Mediterranean fever (FMF gene or MEFV). HLA typing was done in 21 patients at loci B, DRB1, DQA1 and DQB1. MEFV gene was looked in 23 patients using specific primers. During the follow-up we made a new diagnosis of primary Sjögren’s syndrome in four patients (8.7%) and of rheumatoid arthritis in one patient (2.2%). HLA B14, DRB1*01 and DQB1*0202 were significantly more prevalent, but we did not find a typical HLA typing. MEFV gene was searched: exon 10 was checked by sequence and the E148Q mutation by restriction site analysis. No mutations were found. In conclusion, the prevalence of definite immunorheumatological diseases and the absence of the mutations linked to FMF reinforce the notion that idiopathic acute recurrent pericarditis is an autoimmune condition.

Key Words: familial Mediterranean fever • MEFV • pericardial disease • pericarditis • Sjogren’s syndrome

Lupus, Vol. 14, No. 9, 670-674 (2005)
DOI: 10.1191/0961203305lu2197oa


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