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Q J Med 2000; 93: 223-229
© 2000 Association of Physicians

Clinical versus genetic diagnosis of familial Mediterranean fever

G. Grateau, C. Pêcheux1, C. Cazeneuve2, D. Cattan3, M. Dervichian3, M. Goossens2, M. Delpech1, S. Amselem2 and C. Dodé1

From the Service de Médecine Interne, l'Hôtel-Dieu, Paris, 1 Service de Biochimie Génétique, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, 2 Service de Biochimie Génétique et de Génétique Moléculaire Hôpital Henri Mondor, Créteil, and 3 Service d'Hépato-Gastro-entérologie, Hôpital de Villeneuve Saint-Georges, France

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.

Address correspondence to Dr G. Grateau, Service de Médecine Interne, l'Hôtel-Dieu, 1 Place du Parvis Notre-Dame, 75181 Paris cedex 04, France. e-mail: gilles.grateau{at}htd.ap\|[hyphen]\|hop\|[hyphen]\|paris.fr


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