Thrombophilia testing in children: What and when should be tested?

Venous thrombosis (VTE) in children is gaining increased awareness and apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of inherited thrombophilic risk factors (IT), such as protein C-, protein S- and antithrombin deficiency, mutations of factor 5 (F5: rs6025) and factor 2 (F2: rs1799963), even more pronounced when combined IT were involved. Although we have learned more about the pathophysiology of VTE with the increased discovery of IT evidence is still lacking as to whether IT influence the clinical outcome in pediatric VTE. It still remains controversial as to whether children with VTE or offspring from thrombosis-prone families benefit from IT screening. Thus, IT testing in children should be individualized. If the decision “pro screening” is discussed as an appropriate option in adolescents with unprovoked VTE and in children with a positive family history for VTE screening should be performed in a specialized coagulation unit for acquired or inherited and prothrombotic defects based on the individual population background. Apart from the laboratory assessment for the presence/absence of lupus anticoagulants and antiphospholipid antibodies screening should be performed beyond the acute VTE onset and after withdrawal of anticoagulant medication possibly influencing laboratory results.

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