Bruises, bleeds and babies | A story of Type 3 VWD
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Haemnet’s Cinderella Study is investigating the unmet needs of women and girls affected by bleeding disorders. A large number of the participants have VWD.
Von Willebrand disease (VWD) is caused by either a deficiency or impaired function of von Willebrand factor, which affects the blood’s ability to clot. Found in around 1% of the general population, it is the most common inherited bleeding disorder although many people who have VWD don’t experience symptoms. Women and men are affected in similar numbers.
There are three types of VWD:
• Type 1 accounts for 70-80% of cases and usually causes very mild symptoms
• Type 2 is caused by defective functioning of von Willebrand factor. It is usually a moderate disorder and has four subtypes (2A, 2B, 2M and 2N)
• Type 3 is the most severe type of VWD. Caused by a near complete or complete absence of von Willebrand factor and very low level of Factor VIII, it affects around one person in 1-2 million in Europe and the United States.
Symptoms of VWD include easy bruising, frequent or long-lasting nosebleeds, bleeding from the gums, and it may be difficult to stop bleeding after a dental procedure or surgery. Symptoms specific to women include heavy and prolonged periods and an increased risk of bleeding after childbirth. Even when experiencing bleeding symptoms, it is can sometimes be difficult for people with undiagnosed VWD – and women in particular – to obtain a referral for further investigation and diagnosis.
There is no cure for VWD, but there are treatments that can help prevent or treat bleeding symptoms:
• Tranexamic acid is an anti-fibrinolytic agent, usually taken in tablet form, that slows the breakdown of blood clots. It is an effective treatment for heavy periods and other mucosal bleeding, such as nose bleeds.
• The missing von Willebrand factor can be given as prophylaxis, which is designed to protect against and/or prevent bleeding. This form of treatment is usually only used in people in Type 3 VWD and involves giving treatment into the vein at regular intervals (typically two to three times a week).
The first ever international guidelines for the diagnosis and management of VWD were published in January 2021. There is still a need for much more research into the diagnosis, treatment and management of VWD. Emerging evidence around the impact of living with VWD, including issues specific to women, indicates the importance of a multidisciplinary approach to care with a focus on improving quality of life.
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