Differential Diagnosis

The patient's family history and symptoms suggest a bleeding disorder. Given the information, here's a differential diagnosis for the patient's daughter:

• Single most likely diagnosis
  • Type 2 or 3 von Willebrand Disease (VWD): The family history of low antigen activity levels (0.7) and symptoms such as catastrophic bleeding and chronic low-grade thrombocytopenia suggest a more severe form of VWD. Type 2 and 3 VWD are characterized by low levels of von Willebrand factor (VWF) antigen and activity, which can lead to significant bleeding complications.
• Other Likely diagnoses
  • Type 1 von Willebrand Disease (VWD): Although the question asks if Type 1 is still a consideration, it's possible that the daughter could have a milder form of the disease. However, the severity of symptoms in the grandmother and the mother's chronic thrombocytopenia make this less likely.
  • Platelet function disorders: The family history of thrombocytopenia and bleeding complications could also suggest a platelet function disorder, such as Bernard-Soulier syndrome or platelet storage pool disease.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Hemophilia A or B: Although less likely given the family history of VWF antigen activity levels, hemophilia A or B should be considered, especially if the daughter has a significant bleeding history. These conditions can be deadly if not promptly diagnosed and treated.
  • Thrombotic thrombocytopenic purpura (TTP): TTP is a rare but life-threatening condition characterized by thrombocytopenia, microangiopathic hemolytic anemia, and renal failure. It's essential to consider TTP in patients with unexplained thrombocytopenia and bleeding complications.
• Rare diagnoses
  • Glanzmann thrombasthenia: This rare platelet function disorder is characterized by a deficiency or dysfunction of the glycoprotein IIb/IIIa complex, leading to significant bleeding complications.
  • Gray platelet syndrome: This rare condition is characterized by a deficiency of platelet alpha-granules, leading to thrombocytopenia and bleeding complications.