Interpretation

Antithrombin deficiencies due to inherited causes are much less common than those due to acquired causes (see Clinical Information). Diagnosis of hereditary deficiency requires clinical correlation, with the prospect of repeat testing (including antithrombin antigen assay), and family studies (with appropriate counseling). DNA-based diagnostic testing may be helpful, see GNANT / Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies.

The clinical significance (thrombotic risk) of acquired antithrombin deficiency is not well established, but accumulating information suggests possible benefit of antithrombin replacement therapy in carefully selected situations.(4)

Antithrombin deficiency, acquired or congenital, may contribute to the phenomenon of "heparin therapy resistance" (requirement of larger heparin doses than expected for achievement of therapeutic anticoagulation responses). However, it may more often have other pathophysiology, such as "acute-phase" elevation of coagulation factor VIII or plasma heparin-binding proteins.

Increased antithrombin activity is of unknown hemostatic significance. Direct factor Xa inhibitors, rivaroxaban (Xarelto), apixaban (Eliquis), and edoxaban (Savaysa) may falsely elevate the antithrombin activity and mask a diagnosis of antithrombin deficiency.