title: Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence.
abstract: OBJECTIVE
  Although deep vein thrombosis and thromboembolic diseases differ among various races, they are still important in our day. The difficulties in treatment and following-up of these diseases are caused by secret genetic mutations rather than predisposing factors.
  
  
  METHODS
  Between January 2011 and May 2013, patients who were traced for deep vein thrombosis and/or pulmonary embolism were evaluated retrospectively. 84 patients (53.6% males and 46.4% females) were included in the study. Their family histories, predisposing factors and treatments were researched. Factor V Leiden (G 1691A), Factor II G20210A, Plasminogen Activator Inhibitor-Type 1 (4G/5G), and Methylene Tetrahydrofolate Reductase (C677T, A1298C) mutations were investigated from peripheral venous blood.
  
  
  RESULTS
  Among the genetic mutations we searched, the incidence of single mutation rate was observed at 11.9%, double mutation collocation at 44%, triple mutation collocation at 29.8%, quadruple mutation collocation at 13.1%, and finally, quintuplet mutation collocation at 1.2%. Our approximate mutation number was found as 2.47 ± 0.91.
  
  
  CONCLUSIONS
  We observed that multiple mutations were high in number compared to single genetic mutations. The patients who have multiple mutations should be more in the front line considering their diagnosis, treatment and following up, and also in terms of decreasing mortality, morbidity and recurrence.
authors: Turkiye Yuksek Ihtisas Training and Research Hospital, Department of Cardiovascular Surgery, Ankara, Turkey. Electronic address: erdaldr@yahoo.com.
authors: Erdal
authors: E
authors: Simsek
authors: Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: dryesilyurt@hotmail.com.
authors: Ahmet
authors: A
authors: Yesilyurt
authors: Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: ferdapinarli@yahoo.com.
authors: Ferda
authors: F
authors: Pinarli
authors: Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: helezon2003@gmail.com.
authors: Nilnur
authors: N
authors: Eyerci
authors: Turkiye Yuksek Ihtisas Training and Research Hospital, Department of Cardiovascular Surgery, Ankara, Turkey. Electronic address: uluss@yahoo.com.
authors: A Tulga
authors: AT
authors: Ulus
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004843:Epistasis, Genetic / Q000235:genetics*; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D011655:Pulmonary Embolism / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: CTPA; DVT; Deep venous thrombosis; FV; FVL; Factor V; Factor V Leiden; Genetic mutation; MTHFR; Methylene Tetrahydrofolate Reductase; PAI-1; PE; PTM; Plasminogen Activator Inhibitor-Type 1; Pulmonary embolism; VTE; computed tomographic pulmonary angiography; deep venous thrombosis; prothrombin gene; pulmonary embolism; venous thromboembolism