The factor V Leiden mutation (FVL) leads to a seven-fold increased risk of
venous thromboembolism (VTE). In thrombophilic families, 25% of carriers ha
ve experienced thrombosis before the age of 40 years. Aim of our study was
to assess the association of I;VL with VTE in first-degree family members o
f unselected symptomatic and asymptomatic carriers of FVL.
We tested 197 relatives of consecutive thrombosis patients with FVL and 36
relatives of asymptomatic carriers on the presence of FVL and the occurrenc
e of VTE.
The incidence of VTE in relatives with FVL of symptomatic carriers was 0.34
%/year. This was similar to the incidence in relatives with FVL of asymptom
atic carriers. Kaplan Meier analysis in relatives of symptomatic propositi
showed that at the age of 58 years, thrombosis-free survival was reduced to
75% in carriers and 93% in mon-carriers (P<0.05). Carriers of FVL had a th
ree times higher thrombotic risk than non-carriers. In combination with env
ironmental risk factors, FVL clearly adds to the risk of VTE. The thromboti
c incidence I ate in these unselected relatives with FVL, however, is consi
derably lower than was seen in carriers of thrombophilic families (1.7%/yea
r). Therefore, special care should be paid to individuals with a positive f
amily history of venous thrombosis while exposed to these risk factors.