title: Impact of thrombophilic genetic factors on pulmonary embolism: early onset and recurrent incidences.
abstract: The importance of genetic thrombophilic factors in the development of venous thromboembolism has been increasingly recognized. Factor V Leiden (FVL), prothrombin gene mutation G20210A (FII G20210), genetic variant C677T of the methylentetrahydrofolate reductase (MTHFR), as well as the polymorphism A2 (PlA2) in platelet glycoprotein IIb/IIIa were recently discussed. We analyzed the contribution of genetic thrombophilic factors to the pathogenesis of pulmonary embolism (PE) and their association with the early onset and recurrence of PE using DNA analysis methods. In this case control trial we found thrombophilic genetic variants in 58.8% of 51 patients with PE. FVL was found in 23.5% of the patients versus 7.1% of the 98 controls (p=0.01), PlA2 IIb/IIIa was found in 35.3% vs. 14.3% (p=0.03), and FII G20210A was found in 5.9% vs. 2.0% (NS). Patients with recurrent PE had a very high prevalence of genetic factors, 70.4%. High prevalence of FVL was found in patients under 45 years of age: 39.3% (OR=14.23, 95% CI=1.58-330.03, p=0.01) as well as in patients with recurrent incidence (37%, OR=7.647, 95% CI=2.27-26.44, p=0.001). FVL was also significantly higher in the subgroup of patients with PE combined with deep venous thrombosis (OR=6.500, 95% CI=1.81-23.76, p=0.002) in comparison with patients with isolated PE (OR=2.261, 95% CI=0.50-9.69). The carriers of FVL are at higher risk for early and recurrent PE events. High prevalence of PlA2 in PE patients evidently shows the impact of this polymorphism in PE development. A different treatment should be considered in carriers of thrombophilic defects.
authors: Department of Biochemistry, University of Medicine, 1, St. Kliment Ohridski Str, Pleven, 5800, Bulgaria. mdivanov@gmail.com
authors: Petar
authors: P
authors: Ivanov
authors: Regina
authors: R
authors: Komsa-Penkova
authors: Katia
authors: K
authors: Kovacheva
authors: Yavor
authors: Y
authors: Ivanov
authors: Angelina
authors: A
authors: Stoyanova
authors: Ivan
authors: I
authors: Ivanov
authors: Plamen
authors: P
authors: Pavlov
authors: Pavlina
authors: P
authors: Glogovska
authors: Venzislav
authors: V
authors: Nojarov
mesh_terms: D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D019039:Platelet Glycoprotein GPIIb-IIIa Complex / Q000235:genetics*; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000453:epidemiology / Q000235:genetics*; D012008:Recurrence; D018570:Risk Assessment; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics
chemical_list: D019039:Platelet Glycoprotein GPIIb-IIIa Complex; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)