Von Willebrand disease (zero to finals)

Question 1

What is the most common inherited cause of abnormal and prolonged bleeding?

Answer 1

Von Willebrand disease

Question 2

Most common inheritance pattern of Von Willebrand disease?

Answer 2

Autosomal dominant

Question 3

What is deficient in Von Willebrand disease and why is this important?

Answer 3

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

Von Willebrand factor is important in platelet adhesion and aggregation in damaged vessels.

Question 4

How many types of Von Willebrand disease are there?

Answer 4

3 types

Question 5

What are the 3 types of Von Willebrand disease?

Answer 5

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 6

What is the typical presentation for VWD?

Answer 6

Patients present with a history of 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 7

How is VWD diagnosed?

Answer 7

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

Due to the various underlying causes and types, there is no single von Willebrand disease test therefore multiple factors are taken into consideration when diagnosing VWD.

Question 8

When is management needed for VWD?

Answer 8

Management is needed in response to significant bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding).

Question 9

What are the options for preventing bleeding in VWD?

Answer 9

Desmopressin (stimulates the release of vWF from endothelial cells)

Tranexamic acid

Von Willebrand factor infusion

Factor VIII plus von Willebrand factor infusion

Question 10

What are the options for heavy menstrual periods (menorrhagia) in VWD?

Answer 10

Tranexamic acid
Mefenamic acid
Mirena coil
Combined oral contraceptive pill
Norethisterone

Question 11

What may be required in severe cases of menstrual bleeding?

Answer 11

Hysterectomy (removal of the uterus)