Distribution of Familial Mediterranean Fever mutations in surgical emergencies including nonspecific abdominal pain: Surgical point of view

Year 2014, Volume: 39 Issue: 4, 0 - , 22.07.2014

Pınar Yazıcı Bülent Aydınlı İbrahim Pirimli Nilnur Egerci Hasan Doğan Ünal Aydın Rasih Yılmaz

https://doi.org/10.17826/cutf.74383

Abstract

Purpose : Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever and serositis, resulting in pain in the abdomen, chest, joints and muscles. While patients diagnosed with FMF are under follow-up of the internal medicine doctors, surgeons are rarely responsible the initial diagnosis of FMF. We aimed to investigate the frequency of the FMF in the surgical emergency in those with acute nonspecific abdominal pain. Material and Methods: All patients admitted to emergency service due to acute abdominal pain were evaluated and those resulted with nonspecific pain were enrolled. During six months period, patients consistent with above criteria were examined with abdominal x-ray and ultrasound(US), hematological and biochemical test, and physical examinations. Nine type of FMF mutations were investigated in the patients. All results were comparatively evaluated considering MEFV (+) or MEFV(-). Results: There were 68 patients (35, 51.4% male and 33, 48.5% female) with a mean age of 29.5±10.1 (range: 17-49 years). All patients displayed mild or severe abdominal pain. Genetic analysis revealed that 19 [MEFV(+)] out of 68 patients (27,9%) carry mutation either homozygote or heterozygote. The most frequent mutation seen in seven patients was M694V (36.8%). In MEFV(+) patients, fibrinogen, CRP and lactate dehydrogenase levels(LDH) were significantly higher (p

Keywords

Nonspecific abdominal pain, familial mediterranean fever, genetic analysis

Nonspesifik karın ağrısı olan cerrahi acillerde Ailesel Akdeniz Ateşi gen mutasyon dağılım: Cerrahi bakış açısıı

Abstract

Amaç: Ailesel Akdeniz Ateşi ( FMF ) karın, göğüs, eklem ve kaslarda ağrı ile sonuçlanan , ateş ve serositis tekrarlayan nöbetleri ile karakterizedir. FMF tanılı hastalar dahiliye doktorlarının takibinde ike cerrahlar FMF başlangıç tanısında nadiren rol alır. Bu çalışmada akut karın ağrısı ile başvuran hastalarda FMF sorunun cerrahi önemini araştırmaktır. Materyal ve Metod: Altı aylık dönem sürecinde servise akut karın ağrısı ile başvuran ve nonspesifik karın ağrısı olarak sonuçlanan hastalar çalışmaya dahil edildi.Tüm hastalardan onam alındı. Çalışma kriterlerine uyan hastalarda karın x - ray ve ultrasound (US), hematolojik ve biyokimyasal test ve fizik muayene gibi geleneksel rutin işlemler incelendi. Yanı sıra FMF gen mutasyonunun dokuz türü araştırıldı. Tüm sonuçlar, karşılaştırmalı olarak MEFV ( + ) ve MEFV (-) hastalarda değerlendirildi. Bulgular: Yaş ortalaması 29.5 ± 10.1 yıl (alt-üst sınır: 17-49 yıl) olan 68 hasta ( 35 , % 51.4 erkek ve 33 , % 48.5 kadın ) tespit edildi. Yapılan genetik analiz sonucunda 68 hasta hastanın 19 tanesinde (%27,9) dışında homozigot ya da heterozigot mutasyon [MEFV ( + )] tespit edildi. En sık mutasyon M694V ( n=7 % 36,8) idi . MEFV ( + ) hastalarda, fibrinojen, CRP ve laktat dehidrogenaz(LDH) düzeyleri anlamlı derecede yüksek bulundu (p

Keywords

Nonspesifik karın ağrısı, ailesel akdeniz ateşi, genetic analiz

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• Yazışma Adresi / Address for Correspondence: Dr. P ınar Yazıcı Sisli Etfal Training and Research Hospital, Halaskargazi Cad. Etfal Sokak , 34371 İSTANBUL
• E-mail: [e-mail] G eliş tarihi/Received on : 07.06.2014
• Kabul tarihi/Accepted on: 01.07.2014