Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH.J Thromb Haemost 2020; 18(1):17-22JT
Hereditary deficiency of antithrombin, a natural anticoagulant, causes a thrombophilia with a high risk for venous thromboembolism. Guidance for laboratory testing to diagnose antithrombin deficiency include the use of an activity assay for initial testing, performing an antigen test and activity-to-antigen ratio when the activity level is low, using pediatric reference ranges until the age of 6 months, excluding acquired causes of low antithrombin (e.g. liver dysfunction, proteinuria, heparin, disseminated intravascular coagulation, thrombosis, surgery) or falsely normal/elevated results (e.g. argatroban, bivalirudin, dabigatran in factor IIa-based assays; rivaroxaban, apixaban, edoxaban, but not betrixaban in Xa-based assays). Molecular testing, if available, may help determine the risk for thrombosis as this might vary among the different mutations. Moreover, it will identify mutations that can be missed by traditional activity assays. Strategies for interpreting laboratory test results are provided.