Which lab studies are performed in the workup of antithrombin III (ATIII) deficiency?

Updated: Mar 04, 2020
  • Author: James L Harper, MD; Chief Editor: Hassan M Yaish, MD  more...
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Answer

Specific laboratory workup for suspected antithrombin III (ATIII) deficiency depends on the clinical setting. A study by Baiges et al indicated that clinical screening that assesses only anti–factor Xa activity may lead to underdiagnosis of antithrombin deficiency. The report included 89 patients with splanchnic vein thrombosis in whom, via classical diagnostic methods, no antithrombin deficiency was found. However, through functional and immunologic techniques (including enzyme-linked immunosorbent assay [ELISA], crossed immunoelectrophoresis, and western blot), as well as SERPINC1 sequencing, four of the patients (4.5%) were found to have antithrombin alterations, including two with SERPINC1 mutations, one with a variant resulting in transient antithrombin deficiency, and one with a congenital disorder of the N-glycosylation pathway. [17]


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