Table 2.
Prevalence and thrombosis risk for selected thrombophilias
| Thrombophilia | Prevalence | Relative (absolute annualized) risk of Initial VTEa | Relative risk of recurrent VTE | Relative (absolute annualized) risk of initial VTE, OCP usersa,b | Relative (absolute annualized) risk of initial VTE, HRT usersa,b,c | Relative (absolute) risk of initial VTE, pregnancya |
|---|---|---|---|---|---|---|
| FVL Heterozygous |
2–7 % | 3.48–5.51 (0.05-0.2 %) |
1.1–1.8 | 2.47–15.04 (0.1–0.6 %) |
1.4–13.16 (1.6–5.97 %) | 8.3 (0.8–4.6 %) |
| FVL Homozygous |
0.06–0.25 % | 6.79–19.29 (0.8 %) |
1.8 | Uncertain | Uncertain | 34.4 (1.4–25.8 %) |
| PGM Heterozygous |
1–2 % | 2.25–3.48 (0.13 %) |
0.7–2.3 | 3.60–8.63 | (2.85 %) | 6.8 (0.3–5.6 %) |
| PGM Homozygous |
Rare | 2.19–20.72 | Uncertain | Uncertain | Uncertain | 26 (0.2–78.3 %) |
| Compound FVL & PGM Heterozygosity |
0.1 % | 1.13–5.04 (0.42 %) |
2.7 | 3.79–76.47 (0.17 %) |
Uncertain | (4 %) |
| PC deficiency | 0.2–0.5 % | 10 (0.4–2.3 %) |
1.8 | 1.7–23.9 (1.7–7.1 %) |
(2.96 %) | 4.8 (0.4–8.9 %) |
| PS deficiency | 0.1–0.7 % | 9.6 (0.7–3.2 %) |
1.0 | 1.4–17.1 (1.3–2.4 %) |
(2.3 %) | 3.2 (0.2–14.7 %) |
| AT deficiency | 0.02 % | 10–30 (1.2–4.4 %) |
2.6 | 1.4–115.8 (2.5–5.1 %) |
(5.73 %) | 4.7 (0.08–15.8 %) |
| APS | 2 % | 7 | 1.5–6.8 | 0.3–3.1 | (1.05–2.63 %) | 15.8 |
OCP oral contraceptive pill (containing estrogen), HRT hormone replacement therapy (containing estrogen), VTE venous thromboembolism, FVL factor V Leiden, PGM prothrombin Gene G20210A, PC protein C, PS protein S, AT antithrombin, APS antiphospholipid syndrome
aData for are taken from several sources; absolute differences may therefore differ from calculations based on prevalence and relative risk [16, 17, 23, 32, 38, 50, 56, 62, 75–79]
bRelative risks are compared to non-users without thrombophilia
cWith the exception of heterozygous FVL, estimates are based on modeling rather than epidemiologic studies