Genotype Pattern of Pediatric Familial Mediterranean Fever in Jordan: A Single Center Experience

Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retrospective analysis of MEFV mutations in pediatric patients, who were below 14 years of age, diagnosed as FMF and followed up  at Queen Rania Children’s Hospital in Jordan between 2014 and 2017. Results A total of 196 pediatric patients were diagnosed with FMF; 54% Females and 46% males. The mean age of patients was 7.8 ± 3.1 years; mean age at disease onset was 4.9 + 2.3 years old. MEFV gene mutations were homozygous in 47(24%) patients, heterozygous in 87(44.4%) patients, compound heterozygous in 55(28.1%), and negative genotype in 7(3.6%) patients. Five mutations were the most frequent; M694V, E148Q, M680I, M694I, respectively. Conclusion The five-founder FMF mutations were the most detected in Jordanian children but in different order than what had been reported.