Mediterr J Rheumatol 2020;31(2):206-13
Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine
Authors Information

1. Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

2. Ministry of Health, Cairo, Egypt


Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is characterized by recurrent episodes of fever, peritonitis, pleuritis, pericarditis, and/or arthritis. MEFV is the responsible gene for FMF, of which more than 310 mutations have been reported; M694V, M694I, V726A, E148Q, and M680I mutations are the five most frequent mutations responsible for the majority of FMF patients in the Middle East. Aim:To study the genetic background of FMF among Egyptian children to detect the most frequent MEFV mutations and to study the response of colchicine therapy with different gene mutations. Methods: This cross-sectional study included 109 pediatric patients already diagnosed clinically with FMF, and were following-up at the Rheumatology Outpatient Clinic, Children's Hospital, Cairo University. Results: Out of 109 patients, 95 had positive-MEFV mutation (87.16%), of which the most frequent mutations were E148Q (24/95 patients, 25.26%), V726A (19/95 patients, 20%), M680I (19/95 patients, 20%), M694V (17/95 patients, 17.89%), and M694I (7 patients, 7.37%). A better response to colchicine therapy was noted in E148Q mutation; on the other hand, more severe cases were reported with M694V mutations.Conclusion: E148Q, V726A, M680I, M694V and M694I mutations are the most frequent mutations denoting the heterogeneous mutation pattern and the milder form of the disease among Egyptian patients. M694V mutations may indicate a more severe disease score.


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©Talaat HS, Sheba MF, Mohammed RH, Gomaa MA, El Rifaei N, Ibrahim MFM.