Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations

In order to assess the contribution of genetic and acquired thrombophilic defects in the risk of thrombosis in essential thrombocythaemia, we evaluated the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms, homocysteinemia, protein C, prot...

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Autores principales: Castañon, María Mercedes, Kordich, Lucía Clelia
Publicado: 2004
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Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00493848_v112_n3_p131_Kornblihtt
http://hdl.handle.net/20.500.12110/paper_00493848_v112_n3_p131_Kornblihtt
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spelling paper:paper_00493848_v112_n3_p131_Kornblihtt2023-06-08T15:05:47Z Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations Castañon, María Mercedes Kordich, Lucía Clelia Essential thrombocythaemia Factor V Leiden Homocysteine Prothrombin G20210A Thrombophilic defects Thrombosis 5,10 methylenetetrahydrofolate reductase (FADH2) acetylsalicylic acid activated protein C anagrelide antithrombin III beta2 glycoprotein 1 antibody blood clotting factor 5 Leiden cardiolipin antibody homocysteine hydroxyurea lupus anticoagulant phospholipid antibody protein C protein S prothrombin activated protein C resistance adolescent adult aged antibody blood level article cardiovascular risk clinical feature controlled study disease association DNA polymorphism female gene frequency genetic risk heredity homocystinuria human hyperhomocysteinemia major clinical study male microangiopathy priority journal protein blood level protein deficiency school child thrombocythemia thrombophilia thrombosis Adolescent Adult Aged Aged, 80 and over Amino Acid Substitution Antithrombin III Child Female Humans Hydroxyurea Male Middle Aged Platelet Aggregation Inhibitors Protein C Prothrombin Quinazolines Reference Values Thrombocythemia, Hemorrhagic Thrombophilia In order to assess the contribution of genetic and acquired thrombophilic defects in the risk of thrombosis in essential thrombocythaemia, we evaluated the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms, homocysteinemia, protein C, protein S and antithrombin III levels, activated protein C resistance, lupus anticoagulant, anticardiolipin, anti-β2 glycoprotein I and antiphospholipid antibodies in 60 ET patients, 17 with thrombosis and 23 with microvascular disturbances. The allele frequency of prothrombin G20210A polymorphism in ET was higher than in controls (5% vs. 0.7%, p = 0.04) while no differences were found for factor V Leiden (0.8% vs. 1.4%, p = 0.5) nor methylenetetrahydrofolate reductase C677T polymorphism (35.8% vs. 34.3%, p = 0.9). Deficiency of protein C, protein S and antithrombin III levels were not found in any patient although median protein S levels were lower than in controls (89% vs. 110%, p = 0.007). Two patients had activated protein C resistance, six harboured antiphospholipid antibodies and five had hyperhomocysteinemia. Although thrombophilic conditions were detected in one third of our patients with ET, no correlation was found between these prothrombotic factors and the development of thrombosis. Routine screening for these conditions in ET may not be justified. Fil:Castañón, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Kordich, L. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2004 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00493848_v112_n3_p131_Kornblihtt http://hdl.handle.net/20.500.12110/paper_00493848_v112_n3_p131_Kornblihtt
institution Universidad de Buenos Aires
institution_str I-28
repository_str R-134
collection Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic Essential thrombocythaemia
Factor V Leiden
Homocysteine
Prothrombin G20210A
Thrombophilic defects
Thrombosis
5,10 methylenetetrahydrofolate reductase (FADH2)
acetylsalicylic acid
activated protein C
anagrelide
antithrombin III
beta2 glycoprotein 1 antibody
blood clotting factor 5 Leiden
cardiolipin antibody
homocysteine
hydroxyurea
lupus anticoagulant
phospholipid antibody
protein C
protein S
prothrombin
activated protein C resistance
adolescent
adult
aged
antibody blood level
article
cardiovascular risk
clinical feature
controlled study
disease association
DNA polymorphism
female
gene frequency
genetic risk
heredity
homocystinuria
human
hyperhomocysteinemia
major clinical study
male
microangiopathy
priority journal
protein blood level
protein deficiency
school child
thrombocythemia
thrombophilia
thrombosis
Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Antithrombin III
Child
Female
Humans
Hydroxyurea
Male
Middle Aged
Platelet Aggregation Inhibitors
Protein C
Prothrombin
Quinazolines
Reference Values
Thrombocythemia, Hemorrhagic
Thrombophilia
spellingShingle Essential thrombocythaemia
Factor V Leiden
Homocysteine
Prothrombin G20210A
Thrombophilic defects
Thrombosis
5,10 methylenetetrahydrofolate reductase (FADH2)
acetylsalicylic acid
activated protein C
anagrelide
antithrombin III
beta2 glycoprotein 1 antibody
blood clotting factor 5 Leiden
cardiolipin antibody
homocysteine
hydroxyurea
lupus anticoagulant
phospholipid antibody
protein C
protein S
prothrombin
activated protein C resistance
adolescent
adult
aged
antibody blood level
article
cardiovascular risk
clinical feature
controlled study
disease association
DNA polymorphism
female
gene frequency
genetic risk
heredity
homocystinuria
human
hyperhomocysteinemia
major clinical study
male
microangiopathy
priority journal
protein blood level
protein deficiency
school child
thrombocythemia
thrombophilia
thrombosis
Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Antithrombin III
Child
Female
Humans
Hydroxyurea
Male
Middle Aged
Platelet Aggregation Inhibitors
Protein C
Prothrombin
Quinazolines
Reference Values
Thrombocythemia, Hemorrhagic
Thrombophilia
Castañon, María Mercedes
Kordich, Lucía Clelia
Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
topic_facet Essential thrombocythaemia
Factor V Leiden
Homocysteine
Prothrombin G20210A
Thrombophilic defects
Thrombosis
5,10 methylenetetrahydrofolate reductase (FADH2)
acetylsalicylic acid
activated protein C
anagrelide
antithrombin III
beta2 glycoprotein 1 antibody
blood clotting factor 5 Leiden
cardiolipin antibody
homocysteine
hydroxyurea
lupus anticoagulant
phospholipid antibody
protein C
protein S
prothrombin
activated protein C resistance
adolescent
adult
aged
antibody blood level
article
cardiovascular risk
clinical feature
controlled study
disease association
DNA polymorphism
female
gene frequency
genetic risk
heredity
homocystinuria
human
hyperhomocysteinemia
major clinical study
male
microangiopathy
priority journal
protein blood level
protein deficiency
school child
thrombocythemia
thrombophilia
thrombosis
Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Antithrombin III
Child
Female
Humans
Hydroxyurea
Male
Middle Aged
Platelet Aggregation Inhibitors
Protein C
Prothrombin
Quinazolines
Reference Values
Thrombocythemia, Hemorrhagic
Thrombophilia
description In order to assess the contribution of genetic and acquired thrombophilic defects in the risk of thrombosis in essential thrombocythaemia, we evaluated the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphisms, homocysteinemia, protein C, protein S and antithrombin III levels, activated protein C resistance, lupus anticoagulant, anticardiolipin, anti-β2 glycoprotein I and antiphospholipid antibodies in 60 ET patients, 17 with thrombosis and 23 with microvascular disturbances. The allele frequency of prothrombin G20210A polymorphism in ET was higher than in controls (5% vs. 0.7%, p = 0.04) while no differences were found for factor V Leiden (0.8% vs. 1.4%, p = 0.5) nor methylenetetrahydrofolate reductase C677T polymorphism (35.8% vs. 34.3%, p = 0.9). Deficiency of protein C, protein S and antithrombin III levels were not found in any patient although median protein S levels were lower than in controls (89% vs. 110%, p = 0.007). Two patients had activated protein C resistance, six harboured antiphospholipid antibodies and five had hyperhomocysteinemia. Although thrombophilic conditions were detected in one third of our patients with ET, no correlation was found between these prothrombotic factors and the development of thrombosis. Routine screening for these conditions in ET may not be justified.
author Castañon, María Mercedes
Kordich, Lucía Clelia
author_facet Castañon, María Mercedes
Kordich, Lucía Clelia
author_sort Castañon, María Mercedes
title Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
title_short Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
title_full Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
title_fullStr Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
title_full_unstemmed Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations
title_sort associated thrombophilic defects in essential thrombocythaemia: their relationship with clinical manifestations
publishDate 2004
url https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00493848_v112_n3_p131_Kornblihtt
http://hdl.handle.net/20.500.12110/paper_00493848_v112_n3_p131_Kornblihtt
work_keys_str_mv AT castanonmariamercedes associatedthrombophilicdefectsinessentialthrombocythaemiatheirrelationshipwithclinicalmanifestations
AT kordichluciaclelia associatedthrombophilicdefectsinessentialthrombocythaemiatheirrelationshipwithclinicalmanifestations
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