Clinical and genetic characterization of familial Mediterranean fever among a cohort of Egyptian patients

INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease with an autoinflammatory nature. It affects mainly Turkish, Armenian, Arab, and Jewish people. The clinical presentation and the development of complication as amyloidosis. Early diagnosis and predilection of disease severity according to gene mutation facilitates adequate treatment and disease control. AIM: To our knowledge, few studies were done to evaluate FMF in lower Egypt. MATERIAL AND METHODS: This is a prospective study that was carried out at Kafrelsheikh University Hospital Outpatient Clinic between March 2019 and February 2020. We recruited all patients who came to our outpatient clinic with symptoms suggestive of FMF (recurrent attacks of abdominal pain and fever), and diagnosis of FMF was confirmed by gene study. One hundred and nine patients were included; however, 9 patients refused to participate in the study, so final analysis was done for 100 patients only. Patients also underwent abdominal ultrasound examination for measurement of the spleen longitudinal diameter. RESULTS: E148Q mutant allele was the most encountered mutation in our studied patients at Kafrelsheikh, with a frequency of 31%; the number of attacks was greater in patients with positive family history and in homozygous patients. Most patients required a dose between 1.5 and 3 mg/day. CONCLUSIONS: Patients with positive family history and those with homozygous mutation have more attacks with greater severity and higher amyloid deposition. E148Q mutant allele was the most commonly encountered in the studied patients, with a frequency of 31%, followed by M6801 (G/A), which was associated with the highest amyloid A level.