Thrombophilia Consequences in pregnancy & malignancy

The term thrombophilia refers to an increased tendency to develop thrombosis. Inherited thrombophilia encompasses deficiencies of the natural anticoagulants antithrombin, protein C or protein S, and the more common gain-of-function mutations Factor V Leiden and prothrombin G20210A. Thrombophilia also includes acquired conditions, of which antiphospholipid syndrome and myeloproliferative neoplasms are the most well-established. The clinical consequences of thrombophilia range from the aforementioned increased risk of thrombosis to choice of antithrombotic treatment in these specific populations.
Understanding of the association between the various types of thrombophilia and the characterizing clinical aspects has increased substantially over the past two decades. Yet, several important clinically relevant issues remain unresolved. Some of these are women-specific: Can antithrombotic treatment improve pregnancy outcomes in women with inherited or acquired thrombophilia? Does a history of uncommon site venous thrombosis, such as splanchnic vein thrombosis, warrant vigilance in counseling for pregnancy? What is the optimal management of anticoagulant-associated heavy menstrual bleeding in young women? Other outstanding topics concern antithrombotic treatment in patients with a known malignancy, which leads to acquired thrombophilia, who are at high risk of both thrombosis and bleeding: What is the ideal long-term treatment of venous thromboembolism in patients with a myeloproliferative neoplasm? How to manage antithrombotic treatment during thrombocytopenia? And can direct oral anticoagulants also be safely given in patients with brain metastases?
The studies described in the current thesis address these topics and aim to provide new insights on the clinical consequences of thrombophilia in pregnancy and malignancy.