Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.

backgroundFamilial 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.

aimTo 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.

methodsThis 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.

resultsOut 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.

conclusionE148Q, 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.