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Thrombophilic States

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Anticoagulation Therapy

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Abstract

The concept of hereditary thrombophilia was first described by Egeberg in 1965. At that time, he noted that members of his family had suffered from recurrent thrombotic events and that this predisposition was inherited in an autosomal dominant fashion. Since his initial observation, our current understanding of the pathogenesis of thromboembolism has evolved significantly. The current model for pathologic thrombus formation emphasizes the interaction of acquired and genetic risk factors in the pathogenesis of venous and arterial thromboembolism. When the sum total of thrombotic potential exceeds compensatory antithrombotic mechanisms, then symptomatic thromboembolism occurs. This multi-hit hypothesis of venous thromboembolism proposed by Frits Rosendaal in 1999 still provides a useful framework when assessing the etiology of thromboembolism in individual patients and helps inform therapy. Thrombophilia refers to congenital or acquired predispositions to thrombus formation. Here, we review the currently established hereditary and acquired thrombophilias. We will review genetic thrombophilic conditions such as factor V Leiden, the prothrombin gene 20210 mutation, protein C and S deficiency, antithrombin deficiency, hyperhomocysteinemia, and the methylenetetrahydrofolate reductase (MTHFR) mutation. We will also discuss important acquired risk factors such as surgery, trauma, immobility, malignancy, rheumatologic diseases and infections, pregnancy and the postpartum period, hormonal therapies and chemotherapeutic agents, as well as the antiphospholipid antibody syndrome, paroxysmal nocturnal hemoglobinuria (PNH), JAK2-associated myeloproliferative neoplasms, and anatomic predispositions to thrombosis such as May-Thurner syndrome. A focus on the appropriate testing, timing, and the implications of such states being present will be made for each thrombophilic state.

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Authors and Affiliations

  1. Division of Hematology/Oncology, Department of Medicine, Zucker School of Medicine at Hofstra/Northwell, Northwell Health, Lake Success, NY, USA

    Adriana Guigova & Tony Philip

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  1. Adriana Guigova
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  2. Tony Philip
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Correspondence to Tony Philip .

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Editors and Affiliations

  1. Associate Professor of Cardiology, Department of Cardiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health, Manhasset, New York, USA

    Joe F. Lau

  2. Assistant Professor, Division of Internal Medicine, Frankel Cardiovascular Center at the University of Michigan, Ann Arbor, Michigan, USA

    Geoffrey D. Barnes

  3. Professor of Medicine and Pathology, Division of Hematology, Department of Medicine, The Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA

    Michael B. Streiff

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Guigova, A., Philip, T. (2018). Thrombophilic States. In: Lau, J., Barnes, G., Streiff, M. (eds) Anticoagulation Therapy . Springer, Cham. https://doi.org/10.1007/978-3-319-73709-6_15

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  • DOI: https://doi.org/10.1007/978-3-319-73709-6_15

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