Haemophilia and von Willebrand's disease Flashcards
How are haemophilia A and B inherited?
X-linked recessive
What is haemophilia A ?
Factor VIII deficiency
What is haemophilia B?
Factor IX deficiency
Why are X-linked recessive disorders more common in men?
- Men only require 1 abnormal copy of the gene as they only have one X chromosome.
- Women require 2 abnormal copies on both their X chromosomes
What can haemophilia present with?
- Intracranial haemorrhage
- Haematomas
- Cord bleeding in neonates
- Hemarthrosis (bleeding into joints)
- Bleeding into muscles
Other areas of abnormal bleeding include: • Gums • GI tract • Urinary tract causing haematuria • Retroperitoneal space • Following procedures
When do most cases of haemophilia present?
Neonates and early childhood
How would you treat a life-threatening haemophilia A bleed?
- 1st line: Factor VIII
- Desmopression (DDAVP)
- Antifibrinolytic agent
Tranexamic acid
How would you treat a life-threatening haemophilia B bleed?
- 1st line: Factor IX
- Antifibrinolytic agent
Tranexamic acid
What is the prophylaxis for haemophilia A?
VIII
What is the prophylaxis for haemophilia B?
IX
What is the commonest coagulopathy?
Von Willebrand’s disease
What are the types of von Willebrand’s disease?
- Type I
Reduced amount of vW protein
- Type II
Abnormal vW protein
- Type III
Little or no vW proteinWhat would you use to diagnose von Willebrand’s disease?
- Factor VIII
- von Willebrand antigen
- von Willebrand activity
How do you differentiate between types I and II von Willebrand’s disease?
Using the ratio of vWF activity: vWF antigen
How would you use the vWF activity: vWF antigen to differentiate between types I and II von Willebrand’s disease?
- vWF activity: vWF antigen is >0.6 = type I
- vWF activity: vWF antigen is <0.6 = type II
Means if the vWF is active, then its more likely type I.
If there’s normal amounts of vWF, but they’re not active then it must be type II.
