Summary
It is uncertain whether the presence of inherited thrombophilia influences the risk
of developing symptomatic pulmonary embolism (PE) and whether different thrombophilic
alterations are associated with different risks of symptomatic PE. To investigate
such issue, we retrospectively studied 920 patients with proximal deep vein thrombosis
(DVT) of the legs with or without symptomatic PE referred for thrombophilia screening;
patients with overt cancer or antiphospholipid antibodies had been excluded. Three
hundred fifty-four patients (38.5%) had deficiency of antithrombin (AT, n=16), protein
C (PC, n=26), protein S (PS, n=22), factor V Leiden (FVL, n=168), prothrombin G20210A
(PT-GA, n=87), or multiple abnormalities (n=35), and 566 had none of the studied thrombophilic
abnormalities. Symptomatic PE complicated the first DVT in 242 patients (26%); the
risk of PE was increased in patients with AT deficiency (relative risk [RR] 2.4, 95%
confidence interval [CI] 1.6–3.6) or with PT-GA (RR 1.5, 95%CI 1.1–2.0) and decreased
in those with FVL (RR 0.7, 95%CI 0.5–1.0) in comparison with those with unknown inherited
defect. These data suggest that patients with proximal DVT have different risks of
symptomatic PE according to the type of inherited thrombophilia.
Keywords
Venous thrombosis - pulmonary embolism - antithrombin deficiency - factor V Leiden
- prothrombin G20210A