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Published in: Indian Journal of Hematology and Blood Transfusion 1/2014

01-09-2014 | Case Report

Ischemic Stroke in a Patient with Hetrozygous Factor V Leiden Mutation: An Uncommon Association

Authors: P. S. Ghalaut, Joginder Duhan, Vikas Chaudhary, Hemant Krishan Dahiya, Sumin Kaushik, Manisha Sharma, Jitendra Kumar Pehalajani

Published in: Indian Journal of Hematology and Blood Transfusion | Special Issue 1/2014

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Excerpt

Thrombosis is a major cause of morbidity and mortality in a wide range of arterial and venous diseases. It is a multicausal disease involving genetic and acquired risk factors like immobility, malignancy, pregnancy, oral contraceptive use and autoimmune disease [1]. The genetically determined increased likelihood of thrombosis is called thrombophilia. It is commonly due to activated protein C (APC) resistance due to factor V leiden mutation and prothrombin polymorphism. Other less common inherited causes are deficiencies of the protein C, protein S and anti thrombin, hyperhomocysteinemia and increased levels of factor VIII [2, 3]. Venous thrombosis or thromboembolism is most common manifestation of thrombophilia. Arterial thrombosis is present in only minority of cases especially with associated acquired risk factors [4]. We report a patient who developed ischemic stroke due to factor V leiden mutation which is quite rare first presentation. …
Literature
1.
go back to reference Seligsohn U, Lubetsky A (2010) Hereditary thrombophilia. In: Kaushansky K, Lichtman M, Beutler E, Leipps T, Seligsohn U, Prchal J et al (eds) Williams hematology, 8th edn. McGraw Hill, New York, pp 2121–2143 Seligsohn U, Lubetsky A (2010) Hereditary thrombophilia. In: Kaushansky K, Lichtman M, Beutler E, Leipps T, Seligsohn U, Prchal J et al (eds) Williams hematology, 8th edn. McGraw Hill, New York, pp 2121–2143
2.
go back to reference Zoller B, Holm J, Svensson P, Dahlback B (1996) Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thromb Haemost 75:270PubMed Zoller B, Holm J, Svensson P, Dahlback B (1996) Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thromb Haemost 75:270PubMed
3.
go back to reference Simioni P, Scarano L, Gavasso S et al (1996) Prothrombin fragment 1 + 2 and thrombin anti thrombin complex levels in patients with inherited APC resistant due to factor V leiden mutation. Br J Haematol 92:435PubMedCrossRef Simioni P, Scarano L, Gavasso S et al (1996) Prothrombin fragment 1 + 2 and thrombin anti thrombin complex levels in patients with inherited APC resistant due to factor V leiden mutation. Br J Haematol 92:435PubMedCrossRef
4.
go back to reference Rosendaal FR, Siscovick DS, Schwartz SM et al (1997) Factor V leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 89:2817PubMed Rosendaal FR, Siscovick DS, Schwartz SM et al (1997) Factor V leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 89:2817PubMed
5.
go back to reference Lijfering WM et al (2010) Risk factors for venous thrombosis—current understanding from an epidemiological point of view. Br J Haematol 149:824PubMedCrossRef Lijfering WM et al (2010) Risk factors for venous thrombosis—current understanding from an epidemiological point of view. Br J Haematol 149:824PubMedCrossRef
6.
go back to reference Dahlback B (1995) New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg 506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb Haemost 74:139–148PubMed Dahlback B (1995) New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg 506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb Haemost 74:139–148PubMed
7.
go back to reference Bertina RM, Koeleman BP, Koster T et al (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64–67PubMedCrossRef Bertina RM, Koeleman BP, Koster T et al (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64–67PubMedCrossRef
8.
go back to reference Inbal A, Freimark D, Modan B et al (1999) Synergistic effects of prothrombotic polymorphism and atherogenic factors on the risk of myocardial infarction in young males. Blood 93:2186PubMed Inbal A, Freimark D, Modan B et al (1999) Synergistic effects of prothrombotic polymorphism and atherogenic factors on the risk of myocardial infarction in young males. Blood 93:2186PubMed
9.
go back to reference Slooter AJ, Rosendaal FR, Tanis BC et al (2005) Prothrombotic conditions, oral contraceptives, and the risk of ischaemic stroke. J Thromb Haemost 3:1213PubMedCrossRef Slooter AJ, Rosendaal FR, Tanis BC et al (2005) Prothrombotic conditions, oral contraceptives, and the risk of ischaemic stroke. J Thromb Haemost 3:1213PubMedCrossRef
10.
go back to reference Haapanaiemi E, Helenius J, Jakovljevic D et al (2009) Ischeamic stroke patients with hetrogenous factor V leiden present with multiple brain infarctions and widespread arthrorhrombotic disease. Thromb Haemost 101:145 Haapanaiemi E, Helenius J, Jakovljevic D et al (2009) Ischeamic stroke patients with hetrogenous factor V leiden present with multiple brain infarctions and widespread arthrorhrombotic disease. Thromb Haemost 101:145
11.
go back to reference Walker ID, Greaves M, Preston FF (2001) Investigation and management of heritable thrombophilia. Haemostasis and Thrombosis Task Force, British Committee for Standards in Haematology. Br J Haematol 114:512–528CrossRef Walker ID, Greaves M, Preston FF (2001) Investigation and management of heritable thrombophilia. Haemostasis and Thrombosis Task Force, British Committee for Standards in Haematology. Br J Haematol 114:512–528CrossRef
12.
go back to reference Hirsh J, Kearon C, Ginsberg J (1997) Duration of anticoagulant therapy after first episode of venous thrombosis in Patients with inherited thrombophilia. Arch Int Med 157:2174CrossRef Hirsh J, Kearon C, Ginsberg J (1997) Duration of anticoagulant therapy after first episode of venous thrombosis in Patients with inherited thrombophilia. Arch Int Med 157:2174CrossRef
13.
go back to reference Kearon C, Crowther M, Hirsh J (2000) Management of patients with hereditary hypercoaguable disorders. Annu Rev Med 51:169PubMedCrossRef Kearon C, Crowther M, Hirsh J (2000) Management of patients with hereditary hypercoaguable disorders. Annu Rev Med 51:169PubMedCrossRef
14.
go back to reference Schulman S (2003) Care of patients receiving long-term anticoagulant therapy. N Eng J Med 349:675–683CrossRef Schulman S (2003) Care of patients receiving long-term anticoagulant therapy. N Eng J Med 349:675–683CrossRef
Metadata
Title
Ischemic Stroke in a Patient with Hetrozygous Factor V Leiden Mutation: An Uncommon Association
Authors
P. S. Ghalaut
Joginder Duhan
Vikas Chaudhary
Hemant Krishan Dahiya
Sumin Kaushik
Manisha Sharma
Jitendra Kumar Pehalajani
Publication date
01-09-2014
Publisher
Springer India
Published in
Indian Journal of Hematology and Blood Transfusion / Issue Special Issue 1/2014
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-014-0392-2

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