A 3-year-old boy is brought to the emergency department by his mother after spontaneous epistaxis lasting 2 hours. She reports he had prolonged bleeding for 5 days following circumcision at 2 months of age. She also mentions her brother required multiple transfusions during dental work as a child. Vital signs are stable. Laboratory evaluation shows: platelet count 245,000/μL, PT 13 seconds (normal), aPTT 62 seconds (normal control 28-36 seconds). A mixing study with normal plasma does not correct the aPTT to normal. Assay results show factor VIII activity <1%, von Willebrand factor antigen normal, and fibrinogen 320 mg/dL. Which of the following is the most likely diagnosis?
- A)Hemophilia AGABARITO
- B)Hemophilia B (Factor IX deficiency)
- C)von Willebrand disease Type 1
- D)Factor XI deficiency
- E)Antiphospholipid syndrome
Explicação
Hemophilia A (Factor VIII deficiency) is the most likely diagnosis. The key findings are: (1) prolonged aPTT that does not correct with mixing study (indicating a factor deficiency, not an inhibitor initially, though this patient's factor is so low correction ... Ver explicação completa e trilha adaptativa →