{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T01:56:48Z","timestamp":1785031008268,"version":"3.55.0"},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. To detect the FMF in patients with therapy-resistant EPS, Tel-Hashomer criteria, family history of FMF were researched and recorded. We performed performed <jats:italic>MEFV<\/jats:italic> gene analysis on all patients. Forty-three patients with EPS (57.3%) had <jats:italic>MEFV<\/jats:italic> gene mutations and the carrier rate was 30.0%. The most common <jats:italic>MEFV<\/jats:italic> gene alteration was R202Q (55.8%), followed by E148Q (16.2%), R761H (16.2%), V726A (9.3%), M680I (9.3%) and M694V (4.6%). Rarely seen mutations in the Turkish population were also identified: K695R (2.3%), L110P (2.3%) and G304R (2.3%). Eight patients with EPS were diagnosed with FMF and started on colchicine therapy. Three patients with compound heterozygosities for three mutations, two patients with compound heterozygosities for two mutations (K695R\/ V726A and R202Q\/ R761H), one patient with homozygous R202Q, one patient with heterozygous R202Q mutation and one patient with non- R202Q heterozygous mutation (G304R\/\u2013) had clinical FMF symptoms and were started on colchicine therapy. Patients who have therapy-resistant EPS should also be questioned about FMF, especially in high risk populations.<\/jats:p>","DOI":"10.1515\/bjmg-2017-0020","type":"journal-article","created":{"date-parts":[[2018,5,27]],"date-time":"2018-05-27T00:30:45Z","timestamp":1527381045000},"page":"51-58","source":"Crossref","is-referenced-by-count":5,"title":["Increased frequency of <i>MEFV<\/i> genes in patients with epigastric pain syndrome"],"prefix":"10.1515","volume":"20","author":[{"given":"BD","family":"Coskun","sequence":"first","affiliation":[{"name":"Department of Gastroenterology , Kayseri Training and Research Hospital , Kayseri , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Kiraz","sequence":"additional","affiliation":[{"name":"Department of Genetics , Kayseri Training and Research Hospital , Kayseri , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Sevinc","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Kayseri Training and Research Hospital , Kayseri , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Baspinar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine , Kayseri Training and Research Hospital , Kayseri , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Cakmak","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Cumhuriyet University , Faculty of Medicine , Sivas , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2017,12,29]]},"reference":[{"key":"2021040621532537590_j_bjmg-2017-0020_ref_001_w2aab3b7ab1b6b1ab1b5b1Aa","doi-asserted-by":"crossref","unstructured":"Shaib Y, El-Serag HB. The prevelance of risk factors of functional dyspepsia in a multiethnic population in the United States. Am J Gastroenterol. 2004; 99(11): 2210-2216.","DOI":"10.1111\/j.1572-0241.2004.40052.x"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_002_w2aab3b7ab1b6b1ab1b5b2Aa","doi-asserted-by":"crossref","unstructured":"Tack J, Talley NJ, Camilleri M, Holtmann G, Hu P, Malagelada JR, et al. Functional gastroduodenal disorders. Gastroenterology. 2006; 130(5): 1466-1479.","DOI":"10.1053\/j.gastro.2005.11.059"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_003_w2aab3b7ab1b6b1ab1b5b3Aa","doi-asserted-by":"crossref","unstructured":"Tack J, Talley NJ. Functional dyspepsia \u2013 symptoms, definitions and validity of the Rome III criteria. Nat Rev Gastroenterol Hepatol. 2013; 10(3): 134-141.","DOI":"10.1038\/nrgastro.2013.14"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_004_w2aab3b7ab1b6b1ab1b5b4Aa","doi-asserted-by":"crossref","unstructured":"Moayyedi P, Soo S, Deeks J, Delaney B, Innes M, Forman D. Pharmacological interventions for nonulcer dyspepsia. Cochrane Database Syst Rev. 2006; (4): CD001960. Review. Update in: Cochrane Database Syst Rev. 2011; (2): CD001960.","DOI":"10.1002\/14651858.CD001960.pub3"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_005_w2aab3b7ab1b6b1ab1b5b5Aa","doi-asserted-by":"crossref","unstructured":"Miwa H, Kusano M, Arisawa T, Oshima T, Kato M, Joh T, et al. Evidence-based clinical practice guidelines for functional dyspepsia. J Gastroenterol. 2015; 50(2): 125-139.","DOI":"10.1007\/s00535-014-1022-3"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_006_w2aab3b7ab1b6b1ab1b5b6Aa","doi-asserted-by":"crossref","unstructured":"Junk HK, Keum BR, Jo YJ, Jee SR, Rhee PL, Kang YW. Diagnosis of functional dyspepsia: A systematic review. Korean J Gastroenterol. 2010; 55(5): 296-307.","DOI":"10.4166\/kjg.2010.55.5.296"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_007_w2aab3b7ab1b6b1ab1b5b7Aa","doi-asserted-by":"crossref","unstructured":"Padeh S, Berkun Y. Auto-inflammatory fever syndromes. Rheum Dis Clin North Am. 2007; 33(3): 585-623.","DOI":"10.1016\/j.rdc.2007.07.009"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_008_w2aab3b7ab1b6b1ab1b5b8Aa","doi-asserted-by":"crossref","unstructured":"The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997; 17(1): 25-31.","DOI":"10.1038\/ng0997-25"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_009_w2aab3b7ab1b6b1ab1b5b9Aa","doi-asserted-by":"crossref","unstructured":"Soriano A, Manna R. Familial Mediterranean fever: New phenotypes. Autoimmun Rev. 2012; 12(1): 31-37.","DOI":"10.1016\/j.autrev.2012.07.019"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_010_w2aab3b7ab1b6b1ab1b5c10Aa","doi-asserted-by":"crossref","unstructured":"Grateau G, P\u00eacheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Clinical versus genetic diagnosis of familial Mediterranean fever. QJM. 2000; 93(4): 223-229.","DOI":"10.1093\/qjmed\/93.4.223"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_011_w2aab3b7ab1b6b1ab1b5c11Aa","unstructured":"INFEVERS. The registry of Familial Mediterranean Fever (FMF) and heriditary autoinflammatory disorders mutations (http:\/\/fmf.igh.cnrs.fr.ISSAID\/infevers)."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_012_w2aab3b7ab1b6b1ab1b5c12Aa","doi-asserted-by":"crossref","unstructured":"Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997; 40(10): 1879-1885.","DOI":"10.1002\/art.1780401023"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_013_w2aab3b7ab1b6b1ab1b5c13Aa","doi-asserted-by":"crossref","unstructured":"Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik- Wolf H, Livneh A, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009; 60(6): 1862-1866.","DOI":"10.1002\/art.24570"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_014_w2aab3b7ab1b6b1ab1b5c14Aa","unstructured":"Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol. 2003; 30(1): 185-190."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_015_w2aab3b7ab1b6b1ab1b5c15Aa","doi-asserted-by":"crossref","unstructured":"Touitou I. Inheritance of autoinflammatory diseases: Shifting paradigms and nomenclature. J Med Genet. 2013; 50(6): 349-359.","DOI":"10.1136\/jmedgenet-2013-101577"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_016_w2aab3b7ab1b6b1ab1b5c16Aa","doi-asserted-by":"crossref","unstructured":"Etem EO, Deveci SD, Erol D, Yuce H, Elyas H. Familial Mediterranean Fever: A retrospective clinical and molecular study in the east of Anatolia region of Turkey. Open Rheumatol J. 2010; 4: 1-6.","DOI":"10.2174\/1874312901004010001"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_017_w2aab3b7ab1b6b1ab1b5c17Aa","unstructured":"Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A. Familial Mediterranean fever in Armenian population. Georgian Med News. 2008; 156: 105-111."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_018_w2aab3b7ab1b6b1ab1b5c18Aa","doi-asserted-by":"crossref","unstructured":"Sharkia R, Mahajnah M, Zalan, Sourlis C, Bauer P, Sch\u00f6ls L. Comparative screening of FMF mutations in various communities of the Israeli society. Eur J Med Genet. 2013; 56(7): 351-355.","DOI":"10.1016\/j.ejmg.2013.04.002"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_019_w2aab3b7ab1b6b1ab1b5c19Aa","unstructured":"Erden G, Bal C, Gungor Torun O, Uguz, Y\u0131ld\u0131r\u0131mkaya M. Evaluating the frequency of MEFV gene in a group of patients with pre-diagnosis of Familial Mediterranean Fever. Turk Hij Tecr Biyol Derg. 2008; 65(1): 1-5."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_020_w2aab3b7ab1b6b1ab1b5c20Aa","doi-asserted-by":"crossref","unstructured":"Ozcakar ZB, Yalcinkaya F, Cakar N, Acar B, Bilgi\u00e7 AE, Uncu N, et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr. 2011; 170(8): 1055-1057.","DOI":"10.1007\/s00431-011-1404-y"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_021_w2aab3b7ab1b6b1ab1b5c21Aa","doi-asserted-by":"crossref","unstructured":"Akin H, Onay H, Turker E, Cogulu O, Ozkinay F. MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. Mol Biol Rep. 2010; 37(1): 93-98.","DOI":"10.1007\/s11033-009-9543-1"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_022_w2aab3b7ab1b6b1ab1b5c22Aa","doi-asserted-by":"crossref","unstructured":"G\u00fclec D, Sirin Y, Koca\u00f6z S, Uzuncan N, Pirim I. The clinical significance of R202Q mutation in the pyrin gene. Turkiye Klinikleri J Med Sci. 2015; 35(2): 106-111.","DOI":"10.5336\/medsci.2015-44326"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_023_w2aab3b7ab1b6b1ab1b5c23Aa","unstructured":"Ozturk A, Ozcakar B, Ekim M, Akar N. Is MEFV gene Arg202Gln (605 G>A) a disease-causing mutation? Turk J Med Sci. 2008; 38(3): 205-208."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_024_w2aab3b7ab1b6b1ab1b5c24Aa","doi-asserted-by":"crossref","unstructured":"Yigit S, Karakus N, Tasliyurt T, Kaya SU, Bozkurt N, Kisacik B. Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients. Gene. 2012; 506(1): 43-45.","DOI":"10.1016\/j.gene.2012.06.074"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_025_w2aab3b7ab1b6b1ab1b5c25Aa","doi-asserted-by":"crossref","unstructured":"Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007; 71(5): 458-467.","DOI":"10.1111\/j.1399-0004.2007.00789.x"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_026_w2aab3b7ab1b6b1ab1b5c26Aa","doi-asserted-by":"crossref","unstructured":"Comak E, Akman S, Koyun M, Dogan CS, Gokceoglu AU, Arikan Y, et al. Clinical evaluation of R202Q alteration of MEFV genes in Turkish children. Clin Rheumatol. 2014; 33(12): 1765-1771.","DOI":"10.1007\/s10067-014-2602-6"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_027_w2aab3b7ab1b6b1ab1b5c27Aa","doi-asserted-by":"crossref","unstructured":"Cankaya T, Bora E, Bayram Torun M, Ulgenalp A, Kavuk\u00e7u S, T\u00fcrkmen A, et al. Clinical significance of R202Q alteration of MEFV gene in children with Familial Mediterranean fever. Arch Rheumatol. 2015; 30(1): 51-56.","DOI":"10.5606\/ArchRheumatol.2015.4455"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_028_w2aab3b7ab1b6b1ab1b5c28Aa","doi-asserted-by":"crossref","unstructured":"Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, et al. Mutation frequency of Familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet. 2001; 9(7): 553-555.","DOI":"10.1038\/sj.ejhg.5200674"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_029_w2aab3b7ab1b6b1ab1b5c29Aa","doi-asserted-by":"crossref","unstructured":"Oztuzcu S, Ulasli M, Ergun S, Igci YZ, Igci M, Bayraktar R, et al. Screening of common and novel familial Mediterranean fever mutations in south-east part of Turkey. Mol Biol Rep. 2014; 41(4): 2601-2607.","DOI":"10.1007\/s11033-014-3118-5"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_030_w2aab3b7ab1b6b1ab1b5c30Aa","unstructured":"Salehzadeh F, Jafari M, Asl SH, Jahangiri S, Habibzadeh S. MEFV gene profile in Northwest of Iran, twelve common MEFV gene mutations analysis in 216 patients with Familial Mediterranean Fever. Iran J Med Sci. 2015; 40(1): 68-72."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_031_w2aab3b7ab1b6b1ab1b5c31Aa","doi-asserted-by":"crossref","unstructured":"Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Hum Mutat. 2000; 15(4):385-386.","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO;2-A"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_032_w2aab3b7ab1b6b1ab1b5c32Aa","doi-asserted-by":"crossref","unstructured":"Marek-Yagel D, Bar-Joseph I, Pras E, Berkun Y. Is E148Q a benign polymophism or a disease-causing mutation? J Rheumatol. 2009; 36(10): 2372.","DOI":"10.3899\/jrheum.090250"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_033_w2aab3b7ab1b6b1ab1b5c33Aa","doi-asserted-by":"crossref","unstructured":"Altug U, Ensari C, Sayin DB, Ensari A. MEFV gene mutations in Henosch Sch\u00f6nlein purpura. Int J Rheu Dis. 2013; 16(3): 347-351.","DOI":"10.1111\/1756-185X.12072"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_034_w2aab3b7ab1b6b1ab1b5c34Aa","doi-asserted-by":"crossref","unstructured":"Beheshtian M, Izadi N, Kriegshauser G, Kahrizi K, Mehr EP, Rostami M, et al. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet. 2016; 93(3): 667-674.","DOI":"10.1007\/s12041-016-0682-6"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_035_w2aab3b7ab1b6b1ab1b5c35Aa","doi-asserted-by":"crossref","unstructured":"Dogan H, Faruk Bayrak O, Emet M, Keles M, Gulluoglu S, Gul Z, et al. Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations. Gene. 2015; 568(2): 170-175.","DOI":"10.1016\/j.gene.2015.05.045"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_036_w2aab3b7ab1b6b1ab1b5c36Aa","doi-asserted-by":"crossref","unstructured":"Gunesacar R, Celik MM, Arica V, Elmacioglu S, Ozturk OH. Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). Gene. 2014; 546(2): 195-199.","DOI":"10.1016\/j.gene.2014.06.019"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_037_w2aab3b7ab1b6b1ab1b5c37Aa","doi-asserted-by":"crossref","unstructured":"Albayrak F, Selcuk NY, Odabas AR, Cetinkaya R, Pirim I. Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia. Genet Test Mol Biomarkers. 2010; 14(3): 325-328.","DOI":"10.1089\/gtmb.2009.0189"},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_038_w2aab3b7ab1b6b1ab1b5c38Aa","unstructured":"Tomiyama N, Higashiuesato Y, Oda T, Baba E, Harada M, Azuma M, et al. MEFV mutation analysis of familial Mediterranean fever in Japan. Clin Exp Rheumatol. 2008; 26(1): 13-17."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_039_w2aab3b7ab1b6b1ab1b5c39Aa","unstructured":"Ozturk MA, Kanbay M, Kasapoglu B, Onat AM, Guz G, Furst DE, et al. Therapeutic approach to familial Mediterranean fever: A review update. Clin Exp Rheumatol. 2011; 29(4 Suppl 67): 77-86."},{"key":"2021040621532537590_j_bjmg-2017-0020_ref_040_w2aab3b7ab1b6b1ab1b5c40Aa","doi-asserted-by":"crossref","unstructured":"Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, et al. \u2018Silent\u2019 carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clin Genet. 2012; 82(3): 288-291.","DOI":"10.1111\/j.1399-0004.2011.01785.x"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/bjmg\/20\/2\/article-p51.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.sciendo.com\/article\/10.1515\/bjmg-2017-0020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T02:12:31Z","timestamp":1617761551000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.sciendo.com\/article\/10.1515\/bjmg-2017-0020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,1]]},"references-count":40,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,12,29]]},"published-print":{"date-parts":[[2017,12,29]]}},"alternative-id":["10.1515\/bjmg-2017-0020"],"URL":"https:\/\/doi.org\/10.1515\/bjmg-2017-0020","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,1]]}}}