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Hereditary and Acquired Thrombophilia

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Book cover Management of Acute Pulmonary Embolism

Part of the book series: Contemporary Cardiology ((CONCARD))

Abstract

Acquired and hereditary disorders predisposing to venous thromboembolism (VTE) may coexist in an individual and result in latent or overt thrombophilia. Hereditary risk factors are detectable in approx 50% of patients with VTE events and a positive family history. Deficiencies of antithrombin, protein C, and its cofactor protein S, were the first disorders found to increase the risk of recurrent thrombotic events among carriers. Among Caucasians, resistance against activated protein C caused by factor V Leiden (factor V R506Q), and the mutation in the prothrombin promoter region (G20210A), are the most common hereditary prothrombotic defects, with a prevalence of 3 to 5% in the general population. In addition, several other rare defects have been reported. In heterozygous carriers, these disorders increase the risk of suffering a thromboembolic event between 2- and 10-fold. The risk is clearly higher in homozygous individuals, and in those with combined defects. To result in acute VTE, however, inherited deficiencies of hemostasis usually have to interact with acquired transient or permanent risk factors, such as perioperative bedrest, intake of oral contraceptives, or malignancy. Laboratory methods for the diagnosis of the most relevant hereditary defects, and for some acquired thrombophilic disorders such as the antiphospholipid syndrome, have been established and are available at present. Preliminary studies suggest that the laboratory detection of thrombophilic risk factors may not only help explain the cause of VTE in an individual but also affect the management strategy for these patients. This is particularly true for the recommended duration of secondary prophylaxis with vitamin K antagonists after a first thromboembolic event, which needs to take into account the overall risk of recurrence vs that of anticoagulation-related hemorrhage.

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Authors and Affiliations

  1. Department of Hematology and Oncology, University Clinic Charité, Campus Virchow Hospital, University Medicine, Berlin, Germany

    Hanno Riess MD

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  1. Department of Cardiology and Pulmonology, Georg August University, Goettingen, Germany

    Stavros V. Konstantinides MD (Professor of Medicine) (Professor of Medicine)

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© 2007 Humana Press Inc., Totowa, NJ

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Riess, H. (2007). Hereditary and Acquired Thrombophilia. In: Konstantinides, S.V. (eds) Management of Acute Pulmonary Embolism. Contemporary Cardiology. Humana Press. https://doi.org/10.1007/978-1-59745-287-8_15

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  • DOI: https://doi.org/10.1007/978-1-59745-287-8_15

  • Publisher Name: Humana Press

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