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Christelle Orlando: Type II Antithrombin Deficiency Frequently Underdiagnosed Due to Assay Limitations
Christelle Orlando/ResearchGate
Sep 13, 2025, 09:44

Christelle Orlando: Type II Antithrombin Deficiency Frequently Underdiagnosed Due to Assay Limitations

Christelle Orlando, Coagulation Lab Expert at UZ Brussel and Vrije University Brussel, has shared a post on LinkedIn:

“New publication alert
I’m proud to present our recent paper on diagnosis on inherited antithrombin deficiency, published in Thrombosis and Haemostasis.

Diagnostic performance of commercial antithrombin activity assays: do we get what we expect?

In this paper, we compared the most commonly used antithrombin (AT) activity assays in their ability to diagnose inherited antithrombin deficiency, with a focus on type II AT deficiencies.

Key findings:

  • Sensitive commercial AT activity assays are mandatory to identify AT deficiency
  • Diagnostic sensitivity of commercial AT assays varies widely
  • Some commercial AT activity assays are not suited for diagnosis of AT deficiency
  • We report the first method comparison data from AT activity assays performed on CN6000 and sthemO301
  • We describe two novel SERPINC1 variants responsible for type II AT deficiency

Take home messages:
This study highlights the poor performance of commercial antithrombin activity assays in their ability to detect type II AT deficiency. Our results suggest that this subtype of AT deficiency, a severe thrombotic disorder, is underdiagnosed.”

Title: Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

Authors: Christelle Orlando, Céline Drèze, Anton Evenepoel, Sara Seneca, Kristin Jochmans

Christelle Orlando

Read the full paper here.

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antithrombin (AT) Anton Evenepoel AT activity Céline Drèze Christelle Orlando Hematology Hemostasis Hemostasis Today Kristin Jochmans Sara Seneca thrombosis Thrombosis and Haemostasis thrombotic disorder
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