| Summary: | <b>Background:</b> Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disease characterized by pathogenic variants in the <i>MEFV</i> gene, with allele frequencies greatly varying between countries, populations and ethnic groups. <b>Materials and methods:</b> In order to analyze the spectrum of <i>MEFV</i> variants and genotypes among clinically diagnosed FMF patients from South Lebanon, data were collected from 332 participants and 23 <i>MEFV</i> variants were screened using a Real-Time PCR Kit. <b>Results:</b> The mean age at symptom onset was 17.31 ± 13.82 years. The most prevalent symptoms were abdominal pain, fever and myalgia. <i>MEFV</i> molecular analysis showed that 111 patients (63.79%) were heterozygous, 16 (9.20%) were homozygous, and 47 (27.01%) carried two variants or more. E148Q was the most encountered variant among heterozygous subjects. E148Q/M694V was the most frequent in the compound heterozygous/complex genotype group, while M694I was the most common among homozygous patients. Regarding allele frequencies, M694V was the most common variant (20.7%), followed by E148Q (17.1%), V726A (15.7%) and M694I (13.2%). <b>Conclusion:</b> The high percentage of heterozygous patients clinically diagnosed as FMF highlights the pseudo-dominant transmission of the disease in Lebanon and emphasizes the importance of molecular testing for a more accurate diagnosis and better management and treatment of FMF.
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