Table 5.

Suggested thrombophilia testing in hormone-related VTE: who, why, when, what and how to test?

WhoWhyWhenWhatHowc
VTE associated with combined oral contraceptives Strategyb to guide the decision to stop or continue anticoagulant therapy after primary treatment phase; indefinite anticoagulant treatment for patients with thrombophilia is suggested. Only test when, after shared decision-making, the result impacts the decision to stop or continue anticoagulation therapy. Thrombophilia panel:
• factor V Leiden mutation
• prothrombin G20210A mutation
• PC deficiency
• PS deficiency
• AT deficiency
• antiphospholipid antibodies
(LAC, anti-ß2- glycoprotein-I IgG and IgM antibodies, anticardiolipin IgG and IgM antibodies) 
If on DOAC:
• can influence LAC/PC/PSd/AT
results
• briefly interrupt or temporally switch to LMWH and test at anticoagulant trough 
If on VKA:
• can influence LAC/PS/PC results
• switch to LMWH and test at anticoagulant trough 
If on LMWH: test at anticoagulant trough 
VTE provoked by pregnancy or 3-month postpartum period 
VTE associated with assisted reproductive technologya 
VTE associated with hormone replacement therapya 
VTE associated with gender-affirming therapya 
WhoWhyWhenWhatHowc
VTE associated with combined oral contraceptives Strategyb to guide the decision to stop or continue anticoagulant therapy after primary treatment phase; indefinite anticoagulant treatment for patients with thrombophilia is suggested. Only test when, after shared decision-making, the result impacts the decision to stop or continue anticoagulation therapy. Thrombophilia panel:
• factor V Leiden mutation
• prothrombin G20210A mutation
• PC deficiency
• PS deficiency
• AT deficiency
• antiphospholipid antibodies
(LAC, anti-ß2- glycoprotein-I IgG and IgM antibodies, anticardiolipin IgG and IgM antibodies) 
If on DOAC:
• can influence LAC/PC/PSd/AT
results
• briefly interrupt or temporally switch to LMWH and test at anticoagulant trough 
If on VKA:
• can influence LAC/PS/PC results
• switch to LMWH and test at anticoagulant trough 
If on LMWH: test at anticoagulant trough 
VTE provoked by pregnancy or 3-month postpartum period 
VTE associated with assisted reproductive technologya 
VTE associated with hormone replacement therapya 
VTE associated with gender-affirming therapya 
a

Defined as a nonsurgical major transient risk factor.

b

In patients with VTE related to major surgery (who have a low VTE recurrence risk) or patients with unprovoked VTE (who have a high VTE recurrence risk), this strategy is not suggested as a thrombophilia testing strategy does not affect the decision to stop or continue anticoagulation therapy.

c

Applies to therapeutic-dosed anticoagulation; see also Table 5 and Favaloro et al41 for practical points.

d

DOAC use may influence PS activity levels; PS antigen measurements are not affected.

LAC, lupus anticoagulant.

Based on the ASH 2023 guidelines for management of venous thromboembolism: thrombophilia testing, adapted with permission from Middeldorp et al.27 

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