Von Willebrand disease (VWD) is the most common inherited cause of 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).
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.
There are three types of von Willebrand disease:
- 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
Presentation
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
A family history of heavy bleeding (e.g., menorrhagia) or von Willebrand disease is relevant.
Diagnosis
Diagnosis is 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.
Management
Von Willebrand disease does not generally require daily treatment. Management is needed in response to significant bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding). Options include:
- Desmopressin (stimulates the release of vWF from endothelial cells)
- Tranexamic acid
- Von Willebrand factor infusion
- Factor VIII plus von Willebrand factor infusion
Options for heavy menstrual periods include:
- 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.
Last updated August 2023
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