Von Willebrand disease

Question 1

What is VWD the most common inherited cause of?

Answer 1

Abnormal and prolonged bleeding.

There are many underlying genetic causes, most of which are autosomal dominant. There is also a rarer acquired version, usually secondary to an underlying disease (e.g., leukaemia).

Question 2

What happens in VWD?

Answer 2

There is a deficiency, absence or malfunctioning of a glycoprotein called Von Willebrand factors (VWF).

VWF is important in platelet adhesion and aggregation in damaged vessels.

Question 3

What are the 3 types of von Willebrand disease?

Answer 3

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

Question 4

How do patients present?

Answer 4

• unusually easy, prolonged or heavy bleeding
• bleeding gums with brushing
• nosebleeds (epistaxis)
• easy bruising
• heavy menstrual bleeding (menorrhagia)
• heavy bleeding during and after surgical operations

Question 5

What should be checked in family history?

Answer 5

Family history of heavy bleeding (e.g., menorrhagia) or VWD.

Question 6

How is the diagnosis made?

Answer 6

On a history of abnormal bleeding, family history, bleeding assessment tools and laboratory investigations.

There is no single VWD test as there are various underlying causes and types.

Question 7

What blood results would you expect to see?

Answer 7

prolonged bleed time (as they can’t adhere to form the platelet plug), normal platelet count, prolonged APTT (bc vWF acts as a carrier molecule for factor VIII, which is measured by APTT, therefore it’s prolonged

Question 8

What is the management for VWD?

Answer 8

Doesn’t require daily treatment and management is needed in response to significant bleeding or trauma (to stop bleeding) or in preparations (to prevent bleeding)

• desmopressin (stimulates the release of vWF from endothelial cells)
• tranexamic acid
• VWF infusion
• factor VIII plus vWF infusion

Question 9

What are some options for heavy menstrual periods?

Answer 9

• tranexamic acid
• mefenamic acid
• Mirena coil
• combined oral contraceptive pil
• norethisterone
• hysterectomy in severe cases of heavy menstrual periods