Factor V Leiden with Deep Venous Thrombosis

Jeff Gardner

doi:10.29074/ascls.16.1.6

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Jeff Gardner⇑
1. is a second year medical student at Wake Forest University School of Medicine, Winston-Salem NC

Address for correspondence: Jeff Gardner, 828 Knollwood Street, Winston-Salem NC 27103. (336) 760-4405. jgardner{at}wfubmc.edu

Extract

Factor V Leiden (FVL) is an autosomal co-dominantly inherited Arg⁵⁰⁶→Gly substitution of the activated protein C cleavage site affecting 5% of the Caucasian population. FVL results in impaired anticoagulant function without procoagulant modification. Heterozygotes experience a seven-fold increase in thrombotic events, whereas homozygotes may incur a 50 to 100 fold increase. Even though patients are at increased risk for deep venous thrombi, they experience a smaller risk of pulmonary embolism compared to individuals affected by other coagulopathies.

PRESENTATION OF PATIENT A 45-year-old white female presented to an emergency room complaining of fever, cough, and left leg pain. Duplex ultra-sonography revealed a left greater saphenous thrombus with extension into the left common and femoral veins. The patient was discharged on oral warfarin. Two days later the patient returned to the hospital complaining of abdominal swelling, left upper quadrant pain, and epigastric tenderness. Additionally, the prothrombin time (PT) performed upon admission yielded an international normalized ratio (INR) of 1.0. A computed tomography (CT) scan revealed bilateral lung effusions without atelectasis and splenomegaly with multiple low density splenic masses. The patient stated that she experienced slight dyspnea upon exertion. The ventilation perfusion scan was not diagnostic for pulmonary embolus (PE). Upon interview, the patient revealed that she had two prior deep venous thrombi (DVT). Her first occurred at age 25 in her left leg after delivery of her second child. The second DVT occurred at age 43 in her right leg. Also of interest is the death of her daughter subsequent to a…

ABBREVIATIONS: APC = activated Protein C; APTT = activated partial thromboplastin time; CT - computed tomography; DVT = deep venous thrombosis; FV = factor V; FVL = Factor V Leiden; INR = international normalized ratio; LAC = lupus anticoagulant; PE = pulmonary embolus; PNH = paroxysmal nocturnal hemoglobinuria; PT = prothrombin time; RBC = red blood cell; SLE = systemic lupus rythematosus; V/Q ratio = ventilation/perfusion ratio.