{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T10:51:33Z","timestamp":1792407093637,"version":"4.4.0"},"reference-count":43,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T00:00:00Z","timestamp":1597622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Background: Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disease characterized by pathogenic variants in the MEFV gene, with allele frequencies greatly varying between countries, populations and ethnic groups. Materials and methods: In order to analyze the spectrum of MEFV variants and genotypes among clinically diagnosed FMF patients from South Lebanon, data were collected from 332 participants and 23 MEFV variants were screened using a Real-Time PCR Kit. Results: The mean age at symptom onset was 17.31 \u00b1 13.82 years. The most prevalent symptoms were abdominal pain, fever and myalgia. MEFV 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%). Conclusion: 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.<\/jats:p>","DOI":"10.3390\/medsci8030035","type":"journal-article","created":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T06:33:20Z","timestamp":1597646000000},"page":"35","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4198-5371","authenticated-orcid":false,"given":"Ali","family":"El Roz","sequence":"first","affiliation":[{"name":"Faculty of Public Health, Lebanese German University (LGU), Sahel Alma 25136, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghassan","family":"Ghssein","sequence":"additional","affiliation":[{"name":"Faculty of Public Health, Lebanese German University (LGU), Sahel Alma 25136, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batoul","family":"Khalaf","sequence":"additional","affiliation":[{"name":"Faculty of Public Health, Lebanese German University (LGU), Sahel Alma 25136, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taher","family":"Fardoun","sequence":"additional","affiliation":[{"name":"Mashrek Medical Diagnostic Center, Tyre 62111, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Noel","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Faculty of Public Health, Lebanese German University (LGU), Sahel Alma 25136, Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"ref_1","first-page":"261","article-title":"Familial Mediterranean Fever (FMF): From diagnosis to treatment","volume":"14","author":"Loiselet","year":"2004","journal-title":"Sante Montrouge Fr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cytogfr.2016.11.001","article-title":"Cytokine signatures in hereditary fever syndromes (HFS)","volume":"33","author":"Ibrahim","year":"2017","journal-title":"Cytokine Growth Factor Rev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/0002-9343(67)90167-2","article-title":"Familial Mediterranean fever: A survey of 470 cases and review of the literature","volume":"43","author":"Sohar","year":"1967","journal-title":"Am. 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