Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes of fever and serositis caused by mutations in the MEFV gene. FMF primarily affects individuals of Mediterranean ancestry. Typical manifestations include short-lasting attacks of abdominal pain, chest pain, and arthritis. Long-term complications, such as amyloidosis, might be prevented with colchicine treatment. This study aimed to assess the clinical, demographic and molecular features of FMF in Egyptian patients. This multicenter prospective study included 280 clinically suspected FMF patients referred to the outpatient clinics of participating centers. Patients were enrolled based on recurrent episodes of fever and abdominal pain suggestive of FMF. The diagnosis of FMF was established based on the Eurofever/PRINTO criteria, in addition to molecular genetic confirmation of MEFV mutations. Patients who did not meet diagnostic criteria were excluded. The study included 173 female patients, and 107 male patients with age range from 2 up to 60 years. All patients were descending from different families. Parental consanguinity was found in 24.6% while positive family history was seen in 33.2%. The duration of the attack in almost two third of the patients was less than 48 h, only 6% of the patients suffered attacks longer than 72 h. About half the patients achieved a marked reduction or complete cessation of FMF attacks, along with normalization or significant reduction of inflammatory markers (e.g., serum amyloid A), following colchicine therapy at a daily dose of 1.5-3 mg., only 6% needed higher doses. The initial serum amyloid A was normal in 47.5% in the patients and elevated in the remaining patients. Fever was documented in only 19.6% of patients at presentation; abdominal pain was among the most common presentation, seen in 62.1%. The most frequently observed MEFV allele was E148Q (143, 39.5%) followed by M694I (n = 59, 16.3%), A744S and V726A (n = 44, 12.2% for each), then M680I (n = 35, 9.7%). In our multicenter study focused on Egyptians, 93.6% of the enrolled FMF patients carried at least one MEFV variant. The E148Q allele was the most frequently observed followed by M694I. The study also revealed that Egyptian patients exhibited a mild form of the disease with a female predominance. This mild presentation might be attributed to the high E148Q prevalence and low rate of amyloidosis in our cohort.