TELL : +91 0 99 08 87 07 06

 Mcmed International ®: Largest Journal Publication in world

International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
Recommend to
A Friend  | A librarian
Purchase
Purchase Issue
Abstract
Title
FAMILIAL MEDITERRANEAN FEVER COEXISTED DISEASES AND CONDITIONS A CASE SERIES STUDY
Author
Farhad Salehzadeh*
Email
salehzadeh_f@yahoo.com
keyword
Familial Mediterranean fever, MEFV gene, Coexist disease, Associated condition.
Abstract
FMF is an auto inflammatory disease mainly associated with MEFV gene mutations. Until recently, the MEFV gene was considered to be responsible only for FMF. However, it is now known that it can also be associated with other clinical conditions. This study represents FMF-associated disease among our FMF clinic patients. 400 patients who had FMF based on the clinical and or MEFV gene study enrolled to study. Patients if needed were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay. Any co-existed disease was confirmed by related subspecialist team. Among the patients Fifty two (13%) had associated disease.28 patients were male and 23 patients were under ten years old. Five patients had no MEFV mutations and overall, there were 82 MEFV gene mutations. The most common were M694V (30%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common co-exist disease, then followed by GI and CNS disorder. Some rare disease such as TTP, Growth hormone deficiency, MS, ascitis and leiden factor V deficiency have been shown. This homozygote mutations (M694V-M694V) were associated with ascitis, orchitis and pericarditis. Associated disease in FMF usually presents in patients with MEFV gene mutations particularly with these five mutations M694V, E148Q, V726A, M680I, and M694I. Rheumatologic, gastrointestinal and CNS disorders are common co-existed disease.
Download Broucher
Back to Top >>>>