A 34-year-old woman with a history of asthma and oral contraceptive use died suddenly. Autopsy examination showed chronic pulmonary emboli with an acute pulmonary saddle embolus. An underlying congenital thrombophilic disorder was considered. Molecular studies on DNA isolated from blood using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis revealed coagulation factor V Leiden mutation. The incidence of venous thromboembolism in patients with factor V Leiden mutation and associated activated protein C (APC) resistance is discussed.
PIP: This article presents a case report of a 34-year-old woman with a known medical history of asthma and oral contraceptive use who died suddenly from a massive pulmonary embolus. This woman had no underlying malignancy, trauma, recent surgery, or other predisposing factors putting her at risk of venous thromboembolism except for her use of oral contraceptives. Upon autopsy, a large saddle embolus was found occluding the main pulmonary arteries with bilateral extension into the smaller arteries. An acute pulmonary embolus obliterating the lumen of the main pulmonary artery was found during the microscopic examination. Molecular studies of blood DNA using polymerase chain reaction and restriction fragment length polymorphism revealed a coagulation factor V Leiden mutation. Female carriers of factor V Leiden mutation who take oral contraceptives have a more than 30-fold increased risk of developing deep venous thrombosis. This case demonstrates that the woman had an underlying predisposition that was further potentiated by oral contraceptive use. The incidence of venous thromboembolism in patients with factor V Leiden mutation and associated activated protein C resistance is discussed.