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  • Otherwise unexplained dyspnea, tachypnea, or chest pain.
  • Clinical, ECG, or echocardiographic evidence of acute cor pulmonale.
  • Positive chest CT angiography scan with contrast.
  • High-probability ventilation-perfusion lung scan or high-probability perfusion lung scan with a normal chest radiograph.
  • Positive venous ultrasound of the legs with a convincing clinical history and suggestive lung scan.
  • Diagnostic contrast pulmonary angiogram.


The term “venous thromboembolism” (VTE) encompasses both pulmonary embolism (PE) and deep venous thrombosis (DVT) and accounts for more than 250,000 hospitalizations per year in the United States. Venous thromboembolism constitutes one of the most common causes of cardiovascular and cardiopulmonary illnesses in Western civilization. Pulmonary embolism causes or contributes to at least 50,000 deaths per year in the United States, a rate that has probably remained constant for the past three decades. For those who survive PE, further disability includes the potential development of chronic pulmonary hypertension or chronic venous insufficiency. After a VTE event, patients and their physicians are concerned about the presence of an occult carcinoma, the risk of a recurrent PE after anticoagulation therapy has been discontinued, and whether the patients’ family members are at risk for VTE.


“Primary” PE occurs in the absence of surgery or trauma. Patients with this condition often have an underlying hypercoagulable state, although a specific thrombophilic condition may not be identified. A common scenario is a clinically silent tendency toward thrombosis, which is precipitated by a stressor such as prolonged immobilization, oral contraceptives, pregnancy, or hormone replacement therapy. Recently, there has been an increased appreciation of the risks of VTE among patients with medical illnesses, including cancer (which itself may be associated with a hypercoagulable state), congestive heart failure, and chronic obstructive pulmonary disease.


The prevalence of “secondary” PE is high among patients undergoing certain types of surgery, especially orthopedic surgery of the hip and knee, gynecologic cancer surgery, major trauma, and craniotomy for brain tumor. Pulmonary embolism in these patients may occur as late as a month after discharge from the hospital.




Principal thrombophilic risk factors for VTE are listed in Table 26–1. The two most common genetic mutations that predispose to VTE are the factor V Leiden and the prothrombin gene. Both are autosomal-dominant. Whether factor V Leiden predisposes to recurrent VTE after anticoagulation is discontinued remains controversial. The prothrombin gene mutation is associated with an increased risk of recurrent VTE after discontinuation of anticoagulation, especially in patients who have coinherited the factor V Leiden mutation.

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Table 26–1. Thrombophilic Risk Factors for Venous Thromboembolism.

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