Von Willebrand disease (VWD) is the most common inherited cause of abnormal bleeding (haemophilia). There are many different underlying genetic causes, most of which are autosomal dominant. The causes involve a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF). There are three types based on the underlying cause and ranging from type 1 to type 3. Type 3 is the most severe.

Von willebrand factor is also responsible for stabalising FVIII

Types

• type 1: partial reduction in vWF (80% of patients)
• type 2: abnormal form of vWF
• type 3: total lack of vWF (autosomal recessive)

PC:

Patients present with a history of unusually easy, prolonged or heavy bleeding:

• Bleeding gums with brushing
• Nose bleeds (epistaxis)
• Heavy menstrual bleeding (menorrhagia)
• Heavy bleeding during surgical operations
• In VWD there is rarely bleeding into joints (<8%)

Family history of heavy bleeding or von Willebrand disease is very relevant.

Investigations

Diagnosis is based on a history of abnormal bleeding, family history, bleeding assessment tools and laboratory investigations.

• PT - normal