Abstract
A significant proportion of patients with venous thrombosis have a definable underlying inherited or acquired predisposition to thrombosis known as a thrombophilia. Inherited thrombophilic conditions can be divided into type 1 conditions that involve a deficiency of naturally occurring inhibitors of coagulation (antithrombin, protein C and protein S), and type 2 conditions that result in a gain of function in a procoagulant protein (prothrombin gene and factor V Leiden mutations). Type 1 conditions are rarer and associated with a greater increase in the risk of thrombosis. While testing for an underlying thrombophilia may contribute to improved understanding of the causation of a thrombotic event in an individual patient, currently testing for an inherited thrombophilia rarely impacts on clinical decision making. Routine thrombophilia testing in unselected patients with venous or arterial thrombosis is not recommended. Thrombophilia testing in patients with provoked venous thrombosis should not be performed. Testing for thrombophilia, particularly type 1 conditions, may be considered in selected patients with unprovoked venous thrombosis. Patients in whom cessation of anticoagulation is being considered, or who have female first degree relative of reproductive age may be candidates for testing. Testing for acquired thrombophilic conditions such as antiphospholipid antibody syndrome, heparin induced thrombocytopenia, myeloproliferative disease, and paroxysmal nocturnal haemoglobinuria may change clinical management and should be considered in patients with suggestive clinical presentation.
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Further Reading
Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, Mackie I, Makris M, Nokes T, Perry D, Tait RC, Walker I, Watson H, British Committee for Standards in Haematology. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149(2):209–20.
Crowther MA, Kelton JA. Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system. Ann Intern Med. 2003;138:128–34.
Hicks LK, Bering H, Carson KR, Kleinerman J, Kukreti V, Ma A, Mueller BU, O’Brien SH, Pasquini M, Sarode R, Solberg L Jr, Haynes AE, Crowther MA. The ASH Choosing Wisely® campaign: five hematologic tests and treatments to question. Blood. 2013;122(24):3879–83.
Middeldorp S, van Hylckama Vlieg A. Does thrombophilia testing help in the clinical management of patients? Brit J Haem. 2008;143:321–35.
Pengo V, Denas G, Zoppellaro G, Jose SP, Hoxha A, Ruffatti A, Andreoli L, Tincani A, Cenci C, Prisco D, Fierro T, Gresele P, Cafolla A, De Micheli V, Ghirarduzzi A, Tosetto A, Falanga A, Martinell II, Testa S, Barcellona D, Gerosa M, Banzato A. Rivaroxaban vs warfarin in high-risk patients with antiphospholipid syndrome. Blood. 2018;132:1365–71.
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McRae, S.J. (2020). Hypercoagulable States. In: Fitridge, R. (eds) Mechanisms of Vascular Disease. Springer, Cham. https://doi.org/10.1007/978-3-030-43683-4_10
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