Table 4.

Estimated prevalence of thrombophilia in patients with VTE and risk of recurrent VTE associated with the presence of thrombophilia

Type of thrombophiliaPrevalence, median % (min-max)RR for VTE recurrence, positive vs negative (95% CI)
Any thrombophilia 38.0 (21.6-59.5) 1.65 (1.28-2.47) 
Factor V Leiden mutation, homozygous 1.5 (0.3-3.1) 2.10 (1.09-4.06) 
Factor V Leiden mutation, heterozygous 17.5 (4.1-34.8) 1.36 (1.19-1.57) 
Prothrombin G20210A gene mutationa 6.1 (1.4-16.3) 1.34 (1.05-1.71) 
AT deficiency 2.2 (0.2-8.7) 2.07 (1.50-2.87) 
PC deficiency 2.5 (0.7-8.6) 2.13 (1.26-3.59) 
PS deficiency 2.3 (0.7-7.3) 1.30 (0.87-1.94) 
AT, PC, or PS deficiency 7.0 (2.5-18.4) 1.62 (1.17-2.23) 
Antiphospholipid antibodiesb 9.7 (1.9-19.4) 1.92 (0.99-3.72) 
Type of thrombophiliaPrevalence, median % (min-max)RR for VTE recurrence, positive vs negative (95% CI)
Any thrombophilia 38.0 (21.6-59.5) 1.65 (1.28-2.47) 
Factor V Leiden mutation, homozygous 1.5 (0.3-3.1) 2.10 (1.09-4.06) 
Factor V Leiden mutation, heterozygous 17.5 (4.1-34.8) 1.36 (1.19-1.57) 
Prothrombin G20210A gene mutationa 6.1 (1.4-16.3) 1.34 (1.05-1.71) 
AT deficiency 2.2 (0.2-8.7) 2.07 (1.50-2.87) 
PC deficiency 2.5 (0.7-8.6) 2.13 (1.26-3.59) 
PS deficiency 2.3 (0.7-7.3) 1.30 (0.87-1.94) 
AT, PC, or PS deficiency 7.0 (2.5-18.4) 1.62 (1.17-2.23) 
Antiphospholipid antibodiesb 9.7 (1.9-19.4) 1.92 (0.99-3.72) 
a

Also referred to as factor II mutation; separate estimates for heterozygous/homozygous mutations are not available.

b

Lupus anticoagulant, anti–ß2-glycoprotein-1 IgG and IgM antibodies, anticardiolipin IgG and IgM antibodies.

Adapted with permission from Middeldorp et al.27 

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