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

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.

The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain.

Objective: To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these groups of FMF after one year.

Methods: A cross-sectional study was conducted on 70 patients already diagnosed with FMF and following-up at the Rheumatology Clinic, Children's Hospital - Cairo University.