Articles

Advancements in thrombophilia testing: The role of multi-gene panels in venous thromboembolism

BJH - volume 16, issue 4, july 2025

A. Verstraete MD, P. Verhamme MD, PhD, K. Freson PhD, T. Vanassche MD, PhD

SUMMARY

Venous thromboembolism (VTE) is a prevalent condition with a significant acute and long-term morbidity and results from a complex interaction between genetic and environmental risk factors. About half of VTE cases are unprovoked, suggesting an underlying thrombophilia. Nevertheless, conventional thrombophilia tests, which assess deficiencies in antithrombin, protein C, and protein S, and the presence of the prothrombotic factor V Leiden and prothrombin G20210A variants, identify an underlying inherited predisposition in about 40% of VTE cases. These tests lack specificity for VTE and mostly fail to guide therapeutic decisions. Over the past decade, multi-gene panels utilising high-throughput sequencing have been developed to rapidly analyse a preselected set of VTE-risk genes of which most are involved in (anti)coagulation. Initial studies show that these panels can identify variants missed by conventional testing in approximately 40% of both patients with positive and negative thrombophilia workups. However, only about 10% of VTE patients carry previously undetected (likely) pathogenic variants that are of immediate relevance for counselling. The high prevalence of variants of uncertain significance (VUS) and oligogenic variants complicate data interpretation. Further research is necessary to characterise and reclassify these VUS and to evaluate the therapeutic implications of multi-gene panel testing.

(BELG J HEMATOL 2025;16(4):146–51)

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The role of direct oral anticoagulants in the management of cancer-associated thrombosis

BJH - volume 10, issue 4, june 2019

A. Awada MD, PhD, J-F. Baurain MD, PhD, P. Clement MD, PhD, P. Hainaut MD, PhD, S. Holbrechts MD, PhD, K. Jochmans MD, PhD, V. Mathieux MD, PhD, J. Mebis MD, PhD, M. Strijbos MD, PhD, C. Vulsteke MD, PhD, T. Vanassche MD, PhD, P. Verhamme MD, PhD

Cancer patients are at an increased risk of venous thromboembolism (VTE). The current standard initial treatment of an acute episode of VTE in cancer patients consists of the administration of three to six months of subcutaneous low molecular weight heparin (LMWH) at a dose adjusted to the body weight. The efficacy and safety profile of LMWHs are well established, but a drawback of these agents is that they require daily subcutaneous administration. In addition, they are mainly cleared through the kidneys, and their use in patients with severe renal insufficiency may require dose reduction or monitoring of the anti-Xa activity. To address the issues with LMWH, several direct oral anticoagulants (DOAC) have been developed for the treatment of VTE. In contrast to LMWHs and vitamin K antagonist, DOACs directly interfere with thrombin or activated factor X (FXa). DOACs have now become standard treatment options in the general management of VTE, but until recently, there were no results of clinical trials specifically assessing the role of DOACs in the treatment of cancer-associated thrombosis. Recently, the Hokusai VTE cancer study and preliminary data from the Select-D trial demonstrated that DOACs are non-inferior to LMWH in preventing recurrent VTE. However, both studies also show that this comes at the cost of an increased rate of both major and clinically-relevant non-major bleeding. Especially in the subgroup of patients with gastrointestinal cancer, the benefit in VTE recurrence with the DOAC seems to be outbalanced by a significantly increased bleeding risk. Based on the available results, DOACs might represent an interesting alternative for LMWH in certain subgroups of patients, but with an important list of exceptions. It seems reasonable not to use DOACs in patients with a high bleeding risk, and especially in patients with gastrointestinal cancer, DOACs should not be the first-line choice. In summary, while LMWHs are currently the standard of care in the acute management of cancer-associated thrombosis, the advent of DOACs is welcomed for patients at a low bleeding risk who are in need of long-term anticoagulation.

(BELG J HEMATOL 2019;10(4):169–76)

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STAPHYLOCOCCUS AUREUS: MASTER MANIPULATOR OF THE HUMAN HEMOSTATIC SYSTEM

BJH - 2019, issue ?, february 2019

T. Vanassche MD, PhD

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A-140 STAPHYLOCOCCUS AUREUS AND STAPHYLOCOCCUS LUGDUNENSIS BIND VON WILLEBRAND FACTOR TO OVERCOME SHEAR STRESS AND CAUSE ENDOCARDITIS

BJH - volume 8, issue Abstract Book BSTH, february 2017

L. Liesenborghs , J. Claes , M. Peetermans , M. Lox , R. Veloso , M. Criel , S. van Kerckhoven , K. Cludts , prof. dr. W. Peetermans MD, PhD, T. Vanassche MD, PhD, M. Hoylaerts , P. Verhamme MD, PhD

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A-135 CLUMPING FACTOR A, VON WILLEBRAND FACTOR-BINDING PROTEIN AND VON WILLEBRAND FACTOR TO THE VESSEL WALL

BJH - volume 8, issue Abstract Book BSTH, february 2017

J. Claes , L. Liesenborghs , M. Peetermans , T.R. Veloso , D. Missiakas , O. Schneewind , S. Mancini , J.M. Entenza , M.F. Hoylaerts , R. Heying , P. Verhamme MD, PhD, T. Vanassche MD, PhD

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A-112 ABSENCE OF PEAR1 DOES NOT AFFECT MURINE PLATELET FUNCTION

BJH - volume 8, issue Abstract Book BSTH, february 2017

M. Criel , B. Izzi , C. Vandenbriele MD, PhD, L. Liesenborghs , S. van Kerckhoven , M. Lox , K. Cludts , E. A.V. Jones , T. Vanassche MD, PhD, P. Verhamme MD, PhD, M. Hoylaerts

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Addition of idarucizumab to plasma samples containing dabigatran allows to use routine coagulation assays to diagnose hemostasis disorders

BJH - volume 6, issue Abstract Book BSTH, november 2015

M. Peetermans , J. Toelen , J. Schoeters , K. Peerlinck MD, PhD, J. Van Ryn , T. Vanassche MD, PhD, P. Verhamme MD, PhD, M. Jacquemin MD, PhD

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