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Question
A 45-year-old male presents to his primary care physician as he has been experiencing easy bruising and prolonged bleeding after minor cuts. He also reports frequent nosebleeds. He also reports that he has no history of major trauma or surgery. He does mention that he has a family history of blood disorders. The provider orders blood tests and here are the results: CBC - Hemoglobin 13.5 g/dL -MCV 90 fl - Hematocrit 41% - RBC 4.7 x 10^6/uL - WBC 6.2 x 10^3/uL - Platelets 250 x 10^3/uL Coagulation Profile - PT 12 seconds - INR 1.0 - aPTT 46 seconds - Factor XI Activity 20% Additional testing: Genetic testing confirms mutations in the F11 gene.
1. What are the key clinical features in this patient's history, and how do they correlate with potential bleeding disorders?
2. They are considering the patient's family history of blood disorders, what hereditary conditions should be considered in the differential diagnosis?
3. What is the significance of the prolonged aPTT in this patient's coagulation profile, and what specific factor deficiencies could this indicate?
4. How does the genetic test confirming mutations in the F11 gene influence the diagnosis and management of this patient's condition?
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