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Clinical versus genetic diagnosis of familial Mediterranean fever.

Authors :
Grateau G
Pêcheux C
Cazeneuve C
Cattan D
Dervichian M
Goossens M
Delpech M
Amselem S
Dodé C
Source :
QJM : monthly journal of the Association of Physicians [QJM] 2000 Apr; Vol. 93 (4), pp. 223-9.
Publication Year :
2000

Abstract

The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a molecular approach to diagnosis, which is already well established for diagnosing typical clinical forms of FMF. We evaluated the utility of this molecular approach in a large series of patients with various clinical presentations and ethnic origins. We looked for mutations in the MEFV gene in 303 unselected consecutive patients with a variable (from high to low) clinical suspicion of FMF. Two mutations were found in 133 patients (44%). In 22 patients (7%), the clinical diagnosis of FMF was unlikely according to the Tel Hashomer clinical criteria. Our results suggest that the spectrum of FMF-associated signs is broader than previously believed. Wider indications for genotyping should lead to more frequent diagnosis of FMF.

Details

Language :
English
ISSN :
1460-2725
Volume :
93
Issue :
4
Database :
MEDLINE
Journal :
QJM : monthly journal of the Association of Physicians
Publication Type :
Academic Journal
Accession number :
10787450
Full Text :
https://doi.org/10.1093/qjmed/93.4.223