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An Overview of Thrombophilia and Associated Laboratory Testing

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Hemostasis and Thrombosis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1646))

Abstract

Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis. The thrombophilic conditions are conventionally classified as inherited (or genetically determined) and acquired. The former include deficiencies of natural anticoagulants such as antithrombin, protein C, protein S, increased values of clotting factors (especially factor VIII), as well as prothrombotic polymorphisms in genes encoding for factor V (i.e., factor V Leiden) and prothrombin. The latter conditions mainly entail antiphospholipid antibody syndrome, malignancy, acquired elevations of coagulation factors or acquired reduction of natural inhibitors, or hyperhomocysteinemia. Deepened knowledge of all potential risk factors, as well as the clear understanding of their role in the pathophysiology of venous thrombosis, are both essential to help achieve a faster and more efficient diagnosis of this condition as well as a more effective prophylaxis of patients at higher risk and treatment of those with manifest disease.

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Authors and Affiliations

  1. Section of Clinical Biochemistry, University of Verona, Verona, Italy

    Martina Montagnana, Giuseppe Lippi & Elisa Danese

Authors
  1. Martina Montagnana
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  2. Giuseppe Lippi
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  3. Elisa Danese
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Correspondence to Martina Montagnana .

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Editors and Affiliations

  1. Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, Australia

    Emmanuel J. Favaloro

  2. Section of Clinical Biochemistry, University of Verona, Verona, Italy

    Giuseppe Lippi

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Montagnana, M., Lippi, G., Danese, E. (2017). An Overview of Thrombophilia and Associated Laboratory Testing. In: Favaloro, E., Lippi, G. (eds) Hemostasis and Thrombosis. Methods in Molecular Biology, vol 1646. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7196-1_9

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  • DOI: https://doi.org/10.1007/978-1-4939-7196-1_9

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  • Print ISBN: 978-1-4939-7194-7

  • Online ISBN: 978-1-4939-7196-1

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