A 52-year-old woman with hypertension and type 2 diabetes presented with right-sided groin pain after a fall. Her medications included lisinopril, pravastatin, and glipizide. Examination and imaging findings were consistent with fracture of the right femoral neck and she subsequently underwent successful total hip arthroplasty. On postoperative day 4, she developed pain and swelling of the right calf, and duplex ultrasonography demonstrated thrombosis of the right popliteal vein. She reported no personal or family history of thrombosis or complications with prior pregnancies, and she was up to date on routine cancer screening. Anticoagulation therapy with heparin and warfarin was initiated. Thrombophilia testing was performed 48 hours later and included factor V Leiden and prothrombin gene mutations, protein C, protein S, and antithrombin activity, and antiphospholipid antibodies (IgG and IgM anticardiolipin, anti-beta2 glycoprotein 1, and lupus anticoagulant). Results demonstrated decreased activity of protein C (25%; reference range, 70%-160%), protein S (34%; reference range, 65%-160%), and antithrombin (45%; reference range, 80%-130%). She was discharged home with warfarin treatment and referred to the hematology clinic for follow-up. At her follow-up visit 2 weeks later, she was told that because these laboratory test blood samples had been drawn in the context of a recent thrombus and concurrent anticoagulation therapy, the results were spurious, and 3 months of anticoagulation was advised. Prior to having these results explained to her in the hematology clinic, the patient experienced significant worry about possibly suffering from 3 rare disorders and the prospect of passing these on to her children. She remains without recurrent venous thromboembolism (VTE) at 1-year follow-up.
Gupta A, Sarode R, Nagalla S. Thrombophilia Testing in Provoked Venous Thromboembolism: A Teachable Moment. JAMA Intern Med. 2017;177(8):1195–1196. doi:10.1001/jamainternmed.2017.1815
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