Familial Mediterranean fever in Jordanian Children: single centre experience.

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.

Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).

OBJECTIVE: To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. METHOD: This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of panel lines. RESULTS: A total of 1868 (55.6%) samples were found negative, and one or more mutations were detected in 1491 (44.4%) distributed along the mutations. Of the positive results, the Frequency of the mutations was as follows, the M694V was the most common mutation 30%, followed by E 148Q 21.5%, V 726 A 20%, M6801 G/C 9%, M6941 8.3%, P369s 3.7%, A744S 3.1% and 4.2% among the 4 remaining mutations. CONCLUSION: Frequency of common mutations in our study show similar results in comparisons with Mediterranean countries like Egypt, Turkey, and Syria with the most common mutation in our study being M694V followed by E148 Q.