I. Marinelli et al., LOW-PREVALENCE OF FACTOR-V-Q506 IN 41 PATIENTS WITH ISOLATED PULMONARY-EMBOLISM, Thrombosis and haemostasis, 77(3), 1997, pp. 440-443
In 70-80% of cases, pulmonary embolism is the consequence of lower ext
remity deep vein thrombosis. It has been demonstrated that the most co
mmon coagulation defect predisposing to venous thrombosis. resistance
to activated protein C (APC), is not associated with an increased risk
for pulmonary embolism, but the evidence was based on a functional as
say to diagnose APC resistance and no information about concomitant de
ep vein thrombosis was provided. The aim of our study was to evaluate
the prevalence of factor V:Q506, the gene mutation responsible for APC
resistance, in patients with symptomatic non-fatal pulmonary embolism
, whether or not associated with deep vein thrombosis. Patients with u
ncomplicated deep vein thrombosis and healthy controls were investigat
ed as comparison groups. The overall prevalence of factor V:Q506 in 10
6 patients with pulmonary embolism was 12.3%, lower than that found in
106 patients with deep vein thrombosis (22.6%, OR 0.5, 95% CI 0.2-1.0
) but significantly higher than that found in 212 healthy subjects tak
en as controls (2.8%, OR 4.8, 95% CI 1.8-13.0). In the 41 patients wit
h isolated pulmonary embolism, i.e., without the presence of deep vein
thrombosis, the prevalence was 4.9%. similar to that in controls (OR
1.8, 95% CI 0.3-9.6), while in the remaining 65 patients with pulmonar
y embolism associated with deep vein thrombosis the prevalence was sig
nificantly higher (16.9%, OR 5.5, 95% CI 2.0-15.8). In conclusion, the
prevalence of factor V:Q506 is high in patients with pulmonary emboli
sm associated with deep vein thrombosis. whereas in patients with isol
ated pulmonary embolism it is similar to that found in control subject
s. This intriguing finding is of difficult interpretation and needs co
nfirmation by further studies.