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
Read the full paper here.
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