Emil List Larsen: Identifying SERPINC1 Variants and Limitations of Routine Antithrombin Testing
Emil List Larsen, Medical Specialist in Clinical Biochemistry at Zealand University Hospital, shared a post on LinkedIn:
“Antithrombin is one of the most important endogenous anticoagulants, and identifying inherited defects is essential for appropriate anticoagulant treatment and thromboprophylaxis.
However, qualitative antithrombin defects may go undetected when diagnostic rely on a single functional assay.
In this case report (in Danish), Nikolaj Nytofte and I describe a diagnostic challenge: a pathogenic variant in SERPINC1, the gene encoding antithrombin, was missed during the initial thrombophilia workup following venous thromboembolism at the age of 17.
The variant, p.Val30Glu, is associated with transient antithrombin deficiency during physiological stress. This illustrates how a functional defect that manifests under specific conditions may be missed during routine testing.
Unfortunately, the underlying defect was only identified after a second venous thromboembolic event, when lifelong anticoagulant treatment was initiated.
This case highlights the importance of considering the clinical context and the limitations of routine antithrombin testing when hereditary antithrombin deficiency is suspected.”
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