Mahmoud Haghighat - Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran - Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Mozhgan Moghtaderi - Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Shirin Farjadian - Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran - Department of Immunology, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, ۲۰ unrelated patients were enrolled in this study based on clinical criteria. A panel of ۱۲ common MEFV gene mutations was tested. Results: The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis. Eighteen patients responded completely to colchicine therapy. MEFV gene mutations were detected in only ۴۰% of the patients. The most common mutation was E۱۴۸Q, detected in five patients (۲۵%). The V۷۲۶A, M۶۹۴V and P۳۶۹S mutations were each observed in one patient. Conclusions: Although none of the ۱۲ mutations we included in our test panel was detected in ۶۰% of our patients, all of them had FMF symptoms and responded well to colchicine. MEFV full gene sequencing analysis in these patients may lead to finding new mutations in southwestern Iranian FMF patients which would be helpful in designing a local diagnostic kit.

Familial Mediterranean fever, MEFV gene mutations