BY: Lori B. Hornsby, PharmD, BCPS, Assistant Clinical Professor
Department of Pharmacy Practice
Auburn University Harrison School of Pharmacy
Ambulatory Clinical Pharmacist
*Financial disclosures: none declared
Introduction
In 1856 Virchow described changes in the composition of blood that were later termed a hypercoagulable state. This was identified as one of the primary factors responsible for thrombosis formation. Today the term “thrombophilia” is used to describe disorders that affect normal hemostasis, shifting the balance toward thrombus formation. Thrombophilia may be inherited or acquired. Inherited thrombophilia includes factor V Leiden, prothrombin G20210A mutation, deficiencies in natural anticoagulants (protein C, -S, and antithrombin), hyperhomocysteinemia, and elevations in factors VIII, IX, and XI. Acquired disorders include antiphospholipid antibodies as well as certain causes of activated protein C deficiency and hyperhomocysteinemia. Inherited thrombophilias are independent risk factors for venous thromboembolism although their role in arterial events is not as well established. Antiphospholipid antibodies have been shown to increase the risk of both venous and arterial events as well as pregnancy related complications. Thrombophilia status does not affect the treatment of VTE in non-pregnant individuals. Although often conducted in clinical practice, the utility of routine thrombophilia screening has been questioned. The incidence, mechanisms, and implications of each disorder will be discussed in the article below in addition to considerations for treatment and screening for the various thrombophilia.
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