Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the Mediterranean Fever (MEFV) gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. Our aim is to describe clinical phenotype, and genotype of FMF in the Jordanian children.
Patients and methods: A retrospective analysis was conducted on paediatric patients who were below 14 years of age and diagnosed as FMF at Queen Rania Children's Hospital in Jordan between 2014 and 2017.
Results: A total of 196 paediatric patients diagnosed with FMF were included; 54% females and 46% males. The mean age of patients at time of study was 7.8 years, at disease onset was 4.9 years, and at time of diagnosis was 6.6 years. The most common presenting features were abdominal pain (91.8%), fever (73%), arthralgia (16.8 %), and myalgia (12.8%). 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, V726A, E148Q, M680I, M694I. All patients were colchicine responsive. We reported only one case of amyloidosis.
Conclusion: The five FMF founder mutations: M694V, V726A, E148Q, M680I, and M694I were the most common in Jordanian children, but had a different order from other ethnic groups.
Keywords: Arab Genotypes; Familial Mediterranean fever; Jordanian children.
© 2018 The Mediterranean Journal of Rheumatology (MJR).