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

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 venou...

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Autores principales: Palomo G,Iván, Pereira G,Jaime, Alarcón L,Marcelo, Pinochet P,Carmen, Vélez SM,María T, Hidalgo P,Patricia, Skagerberg,Karin, Poblete C,Fernando
Lenguaje:Spanish / Castilian
Publicado: Sociedad Médica de Santiago 2005
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Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001200003
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spelling oai:scielo:S0034-988720050012000032006-01-27Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterialPalomo G,IvánPereira G,JaimeAlarcón L,MarceloPinochet P,CarmenVélez SM,María THidalgo P,PatriciaSkagerberg,KarinPoblete C,Fernando Factor V deficiency Prothrombin Thromboembolism Venous thrombosis 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)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.12 20052005-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001200003es10.4067/S0034-98872005001200003
institution Scielo Chile
collection Scielo Chile
language Spanish / Castilian
topic Factor V
deficiency
Prothrombin
Thromboembolism
Venous thrombosis
spellingShingle Factor V
deficiency
Prothrombin
Thromboembolism
Venous thrombosis
Palomo G,Iván
Pereira G,Jaime
Alarcón L,Marcelo
Pinochet P,Carmen
Vélez SM,María T
Hidalgo P,Patricia
Skagerberg,Karin
Poblete C,Fernando
Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
description 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)
author Palomo G,Iván
Pereira G,Jaime
Alarcón L,Marcelo
Pinochet P,Carmen
Vélez SM,María T
Hidalgo P,Patricia
Skagerberg,Karin
Poblete C,Fernando
author_facet Palomo G,Iván
Pereira G,Jaime
Alarcón L,Marcelo
Pinochet P,Carmen
Vélez SM,María T
Hidalgo P,Patricia
Skagerberg,Karin
Poblete C,Fernando
author_sort Palomo G,Iván
title Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
title_short Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
title_full Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
title_fullStr Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
title_full_unstemmed Factor V Leiden y mutación de la protrombina G20210A en pacientes con trombosis venosa y arterial
title_sort factor v leiden y mutación de la protrombina g20210a en pacientes con trombosis venosa y arterial
publisher Sociedad Médica de Santiago
publishDate 2005
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005001200003
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