A 34-year-old woman with a history of asthma and oral contraceptive use die
d suddenly. Autopsy examination showed chronic pulmonary emboli with an acu
te pulmonary saddle embolus. An underlying congenital thrombophilic disorde
r was considered. Molecular studies on DNA isolated from blood using polyme
rase chain reaction (PCR) and restriction fragment length polymorphism (RFL
P) analysis revealed coagulation factor V Leiden mutation. The incidence of
venous thromboembolism in patients with factor V Leiden mutation and assoc
iated activated protein C (APC) resistance is discussed.