Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial

• Iván Palomo G ^[1] ; Jaime Pereira G ^[2] ; Marcelo Alarcón L ^[1] ; Carmen Pinochet P ^[3] ; María T Vélez SM ^[4] ; Patricia Hidalgo P ^[2] ; Karin Skagerberg ^[1] ; Fernando Poblete C ^[1]
  1. [1] Universidad de Talca

     Universidad de Talca

     Provincia de Talca, Chile

     
  2. [2] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
  3. [3] Universidad San Sebastián

     Universidad San Sebastián

     Comuna de Concepción, Chile

     
  4. [4] Hospital Regional de Talca

     Hospital Regional de Talca

     Provincia de Talca, Chile

     

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• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 133, Nº. 12, 2005, págs. 1425-1433
• Idioma: español
• Títulos paralelos:
  • Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis
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• Resumen

  • Background: Factor V Leiden and G20210A mutation of prothrombin gene are two important genetic polymorphisms associated with an increased risk for thrombosis. Aim: To establish the prevalence of factor V Leiden and prothrombin G20210A mutation in the Chilean population and their association to venous and arterial thromboembolism. Material and methods: A case-control study was conducted where 149 patients with thrombosis (87 with arterial and 62 with venous thrombosis) confirmed by CAT-scan, electrocardiogram and cardiac enzymes or Doppler depending on the case, and 160 healthy blood donors were genetically analyzed for the presence of both polymorphisms. Results: Factor V Leiden mutation was found in 5.4% of patients and in 1.3% of healthy controls (p=0.04). Heterozygosity for G20210A prothrombin mutation was found in 5.4% of patients and in 2.5% of the control group (p=NS). When arterial and venous thrombosis were considered as separate entities, 4.6% of patients with arterial thrombosis and 6.5% with venous thrombosis presented factor V Leiden (p=NS). Likewise, 8.1% of patients with venous thrombosis and 3.5% of patients with arterial thrombosis had G20210A prothrombin mutation (p=NS). Conclusions: In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population (Rev Méd Chile 2005; 133: 1425-33)