Hem/Onc Quiz #20: Hereditary Thrombophilias

1. A 32-year-old woman presents to the clinic for a pre-pregnancy consultation. She mentions that her mother had a history of deep vein thrombosis (DVT) and her sister was recently diagnosed with a pulmonary embolism. Given her family history, she is concerned about her risk for thrombotic events. Which of the following genetic mutations is most commonly associated with hereditary thrombophilia and increases the risk of venous thromboembolism?

Question 1 of 5

2. A 45-year-old man, who was recently diagnosed with a deep vein thrombosis, is found to have a deficiency in a natural anticoagulant protein. This deficiency has left him predisposed to thrombotic events. Which of the following proteins, when deficient, does not typically increase the risk of venous thrombosis?

Question 2 of 5

3. A 29-year-old woman is evaluated for recurrent miscarriages. She has a history of one first-trimester miscarriage and one second-trimester loss. Laboratory tests reveal normal prothrombin time (PT) and activated partial thromboplastin time (aPTT), but genetic testing indicates a mutation known to increase the risk of thrombosis. Which of the following mutations is most strongly associated with hereditary thrombophilia and adverse pregnancy outcomes, including recurrent miscarriages?

Question 3 of 5

4. During a family reunion, a 38-year-old man learns that several of his relatives have had blood clots in their legs or lungs at relatively young ages. Concerned, he visits his physician for an evaluation. Which of the following laboratory findings is most suggestive of an inherited disorder that increases the risk of thrombosis?

Question 4 of 5

5. A 50-year-old man with no significant medical history presents to the emergency department with sudden onset of shortness of breath and chest pain. A CT angiogram of the chest reveals a pulmonary embolism. He is started on anticoagulation therapy. Further history reveals that his father had a deep vein thrombosis at the age of 52. Which of the following tests is most appropriate to identify a common hereditary risk factor for venous thromboembolism in this patient?

Question 5 of 5


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