Skip Navigation

Rheumatology 2009 48(11):1455-1459; doi:10.1093/rheumatology/kep296
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
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 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 arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Ben-Chetrit, E.
Right arrow Articles by Heyman, S. N.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ben-Chetrit, E.
Right arrow Articles by Heyman, S. N.
Related Collections
Right arrow Systemic Lupus Erythematosus and Autoimmunity
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only?

Eldad Ben-Chetrit1, Hagit Peleg2, Suhail Aamar2 and Samuel N. Heyman2

1Department of Medicine, Hadassah-Hebrew University Hospital, Ein Kerem and 2Department of Medicine, Hadassah-Hebrew University Hospital, Mount Scopus, Jerusalem, Israel.

Correspondence to: Eldad Ben-Chetrit, Rheumatology Unit and FMF Center, Hadassah-Hebrew University Medical Center, PO Box 12000, Jerusalem 91120, Israel. E-mail: eldad{at}hadassah.org.il


  Abstract

Objective. FMF is an autosomal recessive hereditary disease, associated with a single gene named MEFV. This gene is considered to be responsible only for FMF. In the present study, we tried to find out whether the MEFV gene is associated with or responsible for clinical conditions other than FMF.

Methods. We looked for patients who presented with signs and symptoms not typical for FMF but carried MEFV mutations. We also searched for reports about similar conditions in the English medical literature, and we surveyed the website ‘Infevers’ for MEFV mutations defined as associated with ‘atypical FMF’.

Results. We encountered three patients carrying MEFV mutations who presented with distinct clinical presentations not typical of FMF. We identified additional reports about MEFV-related non-FMF disease entities such as palindromic rheumatism. By screening the ‘Infevers’ website, we further disclosed 13 cases with MEFV mutations that were defined as ‘atypical FMF’ and 4 cases categorized as ‘recurrent arthritis’.

Conclusions. These findings suggest that the MEFV gene is associated with clinical conditions other than FMF. Changing our concept regarding the MEFV gene and its link to such clinical phenotypes may call for a higher awareness of the existence of additional autoinflammatory diseases. Furthermore, a correct diagnosis of these MEFV gene mutation-associated syndromes will justify a therapeutic trial with colchicine, thereby relieving suffering of many patients who up to now have been misdiagnosed.

KEY WORDS: Autoinflammatory diseases, Periodic fever, FMF, Colchicine, MEFV gene, CIAS1 gene, MVC gene, TNFR1 gene, Livedoid vasculopathy, Atrophie Blanche

Submitted 22 April 2009; revised version accepted 12 August 2009.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




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.