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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todo:paper_00493848_v112_n3_p131_Kornblihtt2023-10-03T14:52:37Z Associated thrombophilic defects in essential thrombocythaemia: Their relationship with clinical manifestations Kornblihtt, L.I. Heller, P.G. Correa, G. Castañón, M. Genoud, V. Vassallu, P. Sarano, J. Kordich, L. Molinas, F.C. 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_00493848_v112_n3_p131_Kornblihtt |
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Universidad de Buenos Aires |
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I-28 |
| repository_str |
R-134 |
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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 Kornblihtt, L.I. Heller, P.G. Correa, G. Castañón, M. Genoud, V. Vassallu, P. Sarano, J. Kordich, L. Molinas, F.C. 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. |
| format |
JOUR |
| author |
Kornblihtt, L.I. Heller, P.G. Correa, G. Castañón, M. Genoud, V. Vassallu, P. Sarano, J. Kordich, L. Molinas, F.C. |
| author_facet |
Kornblihtt, L.I. Heller, P.G. Correa, G. Castañón, M. Genoud, V. Vassallu, P. Sarano, J. Kordich, L. Molinas, F.C. |
| author_sort |
Kornblihtt, L.I. |
| 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 |
| url |
http://hdl.handle.net/20.500.12110/paper_00493848_v112_n3_p131_Kornblihtt |
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