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Thrombophilia testing, recurrent thrombosis, and women's health.

Case Presentation 1: A 33-year-old previously healthy man presented with sudden-onset dyspnea and sharp right-sided chest pain. He had noted right leg edema and calf discomfort a week earlier. He denied recent trauma, surgery, or immobility. His mother had a history of postpartum deep vein thrombosis (DVT). On physical examination, he was tachycardic with a heart rate of 114 bpm, normotensive with a blood pressure of 102/76 mm Hg, and hypoxemic to 88% on room air. Contrast-enhanced chest computed tomogram demonstrated bilateral segmental pulmonary embolism. Right lower-extremity venous ultrasound documented femoral and popliteal DVT.

Case Presentation 2: A 78-year-old woman with hypertension and obesity developed acute left leg edema and pain 2 days after open reduction and internal fixation of a right hip fracture. On physical examination, the patient had severe edema and tenderness of the left lower leg and thigh. Left lower-extremity venous ultrasound documented left common femoral, distal femoral, and popliteal DVT.

Thrombophilias describe inherited and acquired hypercoagulable states that increase the risk of venous and, in some cases, arterial thrombosis. The prevalence of thrombophilias varies according to the population studied. In the general population, thrombophilias are less frequent than “traditional” venous thromboembolism (VTE) risk factors such as cancer, immobility, and obesity. However, in patients who have experienced an initial episode of VTE or have a family history of VTE, the prevalence of thrombophilia increases.

In a European registry of 21 367 consecutive patients with symptomatic VTE, thrombophilia testing was performed in 21%.1 Thrombophilia was detected in 32% of those in whom testing was performed. The most frequently detected thrombophilias were factor V Leiden (26%), antiphospholipid antibodies (20%), and prothrombin gene mutation (18%). The rate of thrombophilia detection was similar in patients with idiopathic (unprovoked) and provoked VTE.

Thrombophilias may be classified according to their diagnostic yield. …