The diagnosis of familial Mediterranean fever (FMF) is primarily based on clinical standards. The purpose of
this study was to investigate the relevance of Mediterranean fever (MEFV) genetic testing in the diagnosis of
FMF as well as to identify the most frequent variant alleles and their relationship to clinical symptoms in Egyptian patients. Egyptian patients with a clinical suspicion of having FMF were studied in order to determine
MEFV genotypes. Each patient was meticulously evaluated through an extensive collection of their medical
history, a thorough clinical examination, and a series of laboratory tests, encompassing CBC, ESR, and CRP
measurements. The MEFV variant screening procedure included the use of reverse dot blot hybridization. The
average age of our patients when they were given a diagnosis was 22.8 ± 1.404 years old. The predominant
clinical manifestations identified were abdominal pain, fever, and arthralgia. Molecular interrogation of the
MEFV gene unveiled that a significant proportion of the cohort, constituting 72 individuals (60%), displayed
heterozygosity, whereas a smaller fraction, comprising 12 subjects (10%), demonstrated homozygosity and an
equivalent number (10%) exhibited compound heterozygosity. Pertaining to the distribution of allele variants,
E148Q emerged as the most prevalent, succeeded by M694I, accounting for 12.5% of the cases, and M680I
(G/A), representing 10.41%. This notable prevalence of heterozygous genotypes among the Egyptian demographic, preliminarily identified as potential FMF cases, underscores the imperative for molecular diagnostics to enhance the precision of FMF identification.