Why Do Genetic and Lab Findings Often Mismatch in VTE Anticoagulant Defect Diagnosis?
Journal of Thrombosis and Haemostasis (JTH) shared an insightful post on LinkedIn:
“Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
In VTE patients, genotype-phenotype concordance for natural anticoagulant defects is far from absolute.
This study reveals that genetic variants may present with normal plasma activity, while reduced activity can occur without detectable variants – underscoring the diagnostic limitations of relying solely on either approach.”
Read the paper here.
Article: Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism
Authors: Christine Van Laer, Marthe Vanrenterghem, Marc Jacquemin, Andreas Verstraete, Sarissa Baert, Cyrielle Kint, Mirjam Kruijt, Renee Ruhaak, Veerle Labarque, Thomas Vanassche, Peter Verhamme, Kathelijne peerlinck, Kathleen Freson
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