Haemophilia

• What is the genetic inheritance of haemophilia?

  X linked recessive
• What are the 3 types of haemophilia?

  A

  B

  C
• What is haemophilia A characterised by?

  Factor VIII deficiency
• What is haemophilia B characterised by?

  Factor XI deficiency
• What sex is haemophilia more common in?

  Males
• Brief pathophys of haemophilia?

  Deficiency in either factor VIII or IX = problem with intrinsic coag cascade = dec activation of factor X -> Xa = dec production of thrombin = dec conv fibrinogen -> fibrin = dec clot formation
• What is haemophilia A also called?

  Classic haemophilia
• What is haemophilia B also called?

  Christmas disease
• What is haemophilia C also called?

  Rosenthal syndrome
• What population is haemophilia C closely related to?

  Ashkenazi Jews
• What is haemophilia C characterised by?

  Factor XI deficiency
• What is the most common type of haemophilia?

  A
• What are some signs and symptoms of haemophilia?

  Haemarthrosis

  Bruising

  Prolonged bleeding

  Muscular haematomas

  Epistaxis
• How may haemophilia present in neonates?

  Prolonged bleeding after circumcision

  Intracranial bleeding

  Prolonged bleeding after heel prick testing
• What are some blood tests done for haemophilia?

  Factor VIII and IX assays

  FBC

  aPTT

  PT (rule out extrinsic/common coag causes)

  LFTs (rule out liver cause)
• What is a hallmark of haemophilia in blood tests?

  Prolonged aPTT
• What imaging can be done for haemophilia?

  USS - localising site of haemorrhage

  Joint X-ray - Ongoing damage

  CT/MRI - identify haematomas/haemorrhages
• How is haemophilia A managed?

  Factor VIII replacement therapy
• How is haemophilia B managed?

  Factor IX replacement therapy
• Desmopressin (DDAVP) can be used in acute episodes of mild haemophilia A to promote the function of factor VIII
• What should medication should you avoid with haemophilia and why?

  Aspirin and NSAIDs -> inc risk of bleeding
• What are some complications with haemophilia?

  Compartment syndrome

  Arthropathy

  Severe haemorrhage