Differential Diagnosis
- Single most likely diagnosis
- G) von Willebrand disease: This is the most likely diagnosis given the patient's symptoms of recurrent epistaxis and mild hemarthroses, particularly with a family history (father also having recurrent epistaxis). The normal platelet count and slightly elevated partial thromboplastin time (PTT) also support this diagnosis, as von Willebrand disease can lead to an increase in PTT due to its effect on factor VIII activity.
- Other Likely diagnoses
- B) Hemophilia A: Although less likely than von Willebrand disease due to the mild nature of the symptoms and the fact that hemophilia A typically presents with more severe hemarthroses, it remains a consideration, especially given the elevated PTT. However, the family history of epistaxis in the father makes hemophilia A (an X-linked recessive disorder) less likely.
- C) Hemophilia B: Similar to hemophilia A, hemophilia B (also known as Christmas disease) is less likely due to the mild symptoms and the pattern of inheritance, but it cannot be ruled out without further testing.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- E) Hypofibrinogenemia: Although rare and less likely given the clinical presentation, hypofibrinogenemia can lead to significant bleeding complications. It's crucial to consider this diagnosis to avoid missing a potentially life-threatening condition.
- Rare diagnoses
- A) Hemolytic-uremic syndrome: This condition is characterized by hemolytic anemia, acute kidney injury, and thrombocytopenia, which does not match the patient's presentation of normal platelet count and the specific pattern of bleeding.
- D) Henoch-Schönlein purpura: Typically presents with palpable purpura, abdominal pain, and arthritis, which are not mentioned in the case.
- F) Immune thrombocytopenic purpura: Characterized by isolated thrombocytopenia, which is not present in this patient (normal platelet count).
- Note: The provided options and the patient's presentation do not align perfectly with some of these rare diagnoses, making them less likely. However, they are included for completeness in the differential diagnosis process.