Von Willebrand Disease

Question 1

What is the most common cause of inherited prolonged bleeding?

Answer 1

Von willebrand dosease

Question 2

What is the most common type of genetic mutation in von willebrand disease? E.g. dominant

Answer 2

Autosomal dominant

Question 3

What is Von willebrand syndrome?

Answer 3

• In von Willebrand disease, there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF).

Causes abnormal and prolonged bleeding

Question 4

What are the 3 types of Von willebrand disease?

Answer 4

1. Type 1 involves a partial deficiency of VWF and is the most common and mildest type
   
   2. Type 2 involves the reduced function of VWF
   3. Type 3 involves a complete deficiency of VWF and is the most rare and severe type

Question 5

What is the presentation of Von willebrand disease? (5)

Answer 5

• Bleeding gums with brushing
• Nosebleeds (epistaxis)
• Easy bruising
• Heavy menstrual bleeding (menorrhagia)
• Heavy bleeding during and after surgical operations

Question 6

What is a Von willebrand disease diagnosis based on? (4)

Answer 6

• A history of abnormal bleeding
• Family history
• Bleeding assessment tools
• Laboratory investigations.

Question 7

What managements can be used to stop or prevent bleeding in Von willebrand disease? (4)

Answer 7

• Desmopressin (stimulates the release of vWF from endothelial cells)
• Tranexamic acid
• Von Willebrand factor infusion
• Factor VIII plus von Willebrand factor infusion

Question 8

Von willebrand disease causes heavy periods. What managements can be used to suppress it? (6)

Answer 8

• Tranexamic acid
• Mefenamic acid
• Mirena coil
• Combined oral contraceptive pill
• Norethisterone
• A hysterectomy (surgical removal of the uterus) may be required in severe cases of heavy menstrual bleeding.