Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (24)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Grateau, G.
Right arrow Articles by Dodé, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Grateau, G.
Right arrow Articles by Dodé, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

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


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Ann Rheum DisHome page
L Federici, C Rittore-Domingo, I Kone-Paut, C Jorgensen, M Rodiere, A Le Quellec, and I Touitou
A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients
Ann Rheum Dis, November 1, 2006; 65(11): 1427 - 1432.
[Abstract] [Full Text] [PDF]

Home page
 Rheumatology (Oxford)Home page
G. Grateau
Clinical and genetic aspects of the hereditary periodic fever syndromes
Rheumatology, April 1, 2004; 43(4): 410 - 415.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.