A 36-year-old Caucasian female is seen in the emergency department (ED) for the evaluation of a sudden onset, left lower chest pain and difficulty in breathing. Approximately one year ago, she was diagnosed with left lower extremity deep vein thrombosis secondary to smoking and oral contraceptive pill (OCP) use. At that time, her OCPs were discontinued, she quit smoking, and she was treated with six months of warfarin therapy. She does not have any other medical problems. Her mother and maternal aunt have had "problems with blood clots." After performing the appropriate ancillary procedures, results reveal the presence of multiple, left-sided pulmonary emboli. A diagnosis of an inherited thrombophilia is suspected. Which of the following is most likely to be present in this patient?

Question

A 36-year-old Caucasian female is seen in the emergency department (ED) for the evaluation of a sudden onset, left lower chest pain and difficulty in breathing.  Approximately one year ago, she was diagnosed with left lower extremity deep vein thrombosis secondary to smoking and oral contraceptive pill (OCP) use.  At that time, her OCPs were discontinued, she quit smoking, and she was treated with six months of warfarin therapy.  She does not have any other medical problems.  Her mother and maternal aunt have had "problems with blood clots."  After performing the appropriate ancillary procedures, results reveal the presence of multiple, left-sided pulmonary emboli.  A diagnosis of an inherited thrombophilia is suspected.  Which of the following is most likely to be present in this patient?

Quizplus · Accepted Answer

Explanation: The patient in the above scenario has suffered from a second episode of venous thromboembolism in a year. Factor V Leiden is the most common cause of inherited or heredity thrombophilia, accounting for approximately 40-50% of the inherited thrombophilias. These disorders predispose the patient to the development of venous thromboembolism. (Choices B, C, D and E)Other common causes of heredity thrombophilia include prothrombin gene mutation, hyperhomocysteinemia, protein C, protein S, and antithrombin III deficiency. Some patients may have more than one type of inherited disorder, and are at even greater risk for venous thromboembolism. Educational Objective: Factor V Leiden is the most common cause of inherited or heredity thrombophilia, accounting for approximately 40-50% of the inherited thrombophilias.

A 36-Year-Old Caucasian Female Is Seen in the Emergency Department (ED) For