42-year-old woman with heavy bleeding and bruising
A 42-year-old woman is evaluated for heavy menstrual bleeding and easy bruising. Since adolescence she has had prolonged bleeding after dental work and frequent epistaxis. She takes no medications and has no liver disease. Examination shows scattered ecchymoses but no hemarthroses or splenomegaly. Hemoglobin is 10.8 g/dL, platelet count is 245,000/mm3, PT is normal, and aPTT is mildly prolonged. Which of the following is the most likely diagnosis?
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C
Explanation
Clinical Pearl:
Mucocutaneous bleeding with normal platelet count, normal PT, and a normal or mildly prolonged aPTT should prompt consideration of von Willebrand disease, the most common inherited bleeding disorder. Reduced von Willebrand factor impairs platelet adhesion and can also lower factor VIII levels.
Explanation:
This patient has a lifelong mucocutaneous bleeding pattern, including epistaxis, menorrhagia, bruising, and excess bleeding with dental procedures, which is classic for von Willebrand disease. The laboratory pattern also fits: platelet count is normal, PT is normal, and aPTT can be normal or slightly prolonged because von Willebrand factor stabilizes factor VIII. Hemophilia A causes deep tissue bleeding and hemarthroses rather than predominant mucosal bleeding, and it is much less likely in this woman with heavy menstrual bleeding since adolescence. Acquired factor VIII inhibitor usually presents later in life with new severe bleeding and an isolated prolonged aPTT, not a longstanding history from adolescence. Glanzmann thrombasthenia causes mucocutaneous bleeding with normal PT and aPTT, so the mildly prolonged aPTT here points instead to von Willebrand disease. Vitamin K deficiency prolongs PT first and does not explain this lifelong pattern with isolated mucosal bleeding.
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