Haemophilia and Von Willebrand Disease Flashcards
What is haemophilia A?
Factor VIII deficiency mainly caused by an X-linked mutation
What are categories of haemophilia?
Severe, moderate, mild
How does mild haemophilia A present?
Bleeding after trauma
How does moderate haemophilia A present?
Bleeding following venepuncture, bleeding following trauma
How does severe haemophilia A present?
Neonatal bleeding, history of spontaneous bleeding, GI bleeds, haematuria
What blood results would you expect?
Low haemocrit, low Hb, normal prothrombin and bleeding time, prolonged activated partial thromboplastin time, heavily reduced factor VIII
Why would you do a head CT?
To look for haemorrhages
How do you manage haemophilia A?
Prophylactic factor VIII, fresh frozen plasma containing factor VIII to be given for acute bleeds, desmopressin to boost factor VIII activity
What is haemophilia B?
Factor IX deficiency mainly caused by a X-linked mutation
How does haemophilia B present?
Bruising, epistaxis, pallor, haemoptysis, heavy bleeding from minor trauma, bleeding from tooth loss in childhood, joint pain and stiffness, headache, irritability, vomiting, haematemesis from GI bleed
What blood results would you expect in haemophilia B?
Normal prothrombin time, prolonged activated partial thromboplastin time, low factor IX
When would you do an endoscopy?
If GI bleed suspected
When do you start management of haemophilia B?
Before confirmed diagnosis
How do you manage haemophilia B?
Recombinant factor IX, vaccination against hepatitis A and B, patients should wear a medical emergency bracelet
What does von Willebrand factor do?
Assists platelet plug formation, binds to factor VIII
