Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

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dc.authoridYildirim, Malik Ejder/0000-0003-4386-1583
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorÖzdemir, Öztürk
dc.contributor.authorKilicgun, Hasan
dc.contributor.authorAydemir, Didem S.
dc.contributor.authorBaser, Burak
dc.contributor.authorSezgin, Ilhan
dc.date.accessioned2025-01-27T20:59:52Z
dc.date.available2025-01-27T20:59:52Z
dc.date.issued2019
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with El 480, V726A and R761 H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group.
dc.identifier.doi10.5144/0256-4947.2019.382
dc.identifier.endpage387
dc.identifier.issn0256-4947
dc.identifier.issn1319-9226
dc.identifier.issue6
dc.identifier.pmid31804137
dc.identifier.scopus2-s2.0-85076114123
dc.identifier.scopusqualityQ2
dc.identifier.startpage382
dc.identifier.urihttps://doi.org/10.5144/0256-4947.2019.382
dc.identifier.urihttps://hdl.handle.net/20.500.12428/26864
dc.identifier.volume39
dc.identifier.wosWOS:000500935300002
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherK Faisal Spec Hosp Res Centre
dc.relation.ispartofAnnals of Saudi Medicine
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectSpectrum
dc.subjectChildren
dc.titlePrevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia
dc.typeArticle

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