Thrombophilia Screening: Universal, Selected, or Neither?

Abstract

The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events. Avoidance of modifiable risk factors and/or prophylactic thromboembolic procedures may be evaluated in selected patients. A comprehensive workup including personal and familial history, clinical examination, and laboratory test results including hereditary thrombophilia remains helpful in assessing the cumulative risk and the management of this group of selected patients.

Thrombophilia screening revisited: an issue of personalized medicine

“…Genetic thrombophilia screening-indicated only in selected patients [49]-include inherited deficiency of the natural anticoagulants protein C, protein S, antithrombin, and the mutation of factor V Leiden and the prothrombin gene. Blood group, hyperhomocysteinemia and dysfibrinogenemia are other inherited causes of thrombophilia (Table 4).…”

Venous Thromboembolism in a Young Girl with Duplication of the Inferior Vena Cava and Protein S Deficiency

“…Most pediatric VTE is provoked and occurs with multiple risk factors [5]. Genetic risk factors play an important role in children who develop VTE and thrombophilia screening is suggested in selected patients with VTE, such as young patients [6]. Protein S deficiency leads to loss of control of thrombin generation and fibrinolysis, and is associated with 5.8-fold increased odds of index VTE [7].…”

Lung Adenocarcinoma Presenting as Multiple Thromboembolic Events: A Case Report and Review of the Literature

“…On the contrary, common acquired causes of thrombophilia include age more than 65 years, body mass index more than 30 kg/m 2 , and the presence of antiphospholipid antibodies and lupus anticoagulant. 3 Our patient satisfied at least 2 conditions which indicated testing, including age less than 50 years and an arterial event (ischemic stroke of the left MCA). However, the patient's initial workup was done while inpatient, 2 days after presentation and after 2 doses of rivaroxaban.…”

“… 2 Inherited thrombophilia, a genetic tendency to thrombotic complications in the setting of an imbalance in hemostasis of the coagulation cascade, such as antithrombin deficiency, antithrombin resistance, protein C deficiency, protein S deficiency, and factor V Leiden mutation are commonly associated with the development of VTE. 3 These conditions should be investigated in patients to assess the likelihood of recurrence. The population that often benefits from testing are young patients, those with family history of thrombotic events, pregnant females, patients with VTE in unusual sites, and young patients presenting with arterial ischemia and right-to-left shunt.…”