von Willebrand Awareness Day

Today is the first day in my initiative to raise awareness for Rare Disease Day, coming up on the 29th February.

I will post something about one rare disease every day during February. Mostly, these will be personal stories from people living with a rare disease. The stories that are coming, will truly humble you. Amazing people with resilience beyond my comprehension!

But...today is a bit different. Today is von Willebrand awareness day, so that seemed like the obvious place to start this initiative. There is a great initiative being run by the European Haemophilia Consortium.

I have written an introduction to VWD, and the reasons for its under diagnosis. Maybe some of the symptoms will resonate with someone, as around 1% of the population have this condition, and many will not have been yet diagnosed. There are some useful links at the bottom of the article, where you can find more information.

Von Willebrand disease

Today is a big day for the Von Willebrand disease  (VWD) community. February the 1st is the birthday of Erik Adolf von Willebrand, the Finnish physician who discovered the disease 100 years ago.

VWD is a blood disorder in which the blood does not clot properly due to a malfunctioning or low blood protein level called von Willebrand Factor (VWF). VWF carries another blood clotting factor (Factor 8) to the injury site, helping the platelets clump together to form a clot.

Of all the inherited bleeding disorders, VWD is the most common, occurring in around 1% of the population. Someone can also have VWD without any affected family members (spontaneous), or it can just happen during life (acquired). While VWD affects all genders equally, symptoms are more apparent in people who menstruate.

There are three types of VWD;

Type 1 is the most common (low VWF levels).

Type 2, the protein doesn’t work correctly.

Type 3 is the most severe form, with very little or no VWF.

Evidence suggests that people with blood type O often have lower levels of VWF than other blood types.

Bleeding symptoms range from no symptoms at all to severe bleeds, even within each type. People with mild forms may not require regular treatment but need specialised care during surgical procedures, dental care, or giving birth.

VWD is under-recognised and underdiagnosed. The delay to diagnosis can be 15 years or more. This is partially because one of the most common symptoms of VWD is prolonged or heavy menstrual periods. This symptom is common to many people who menstruate, so often, people remain undiagnosed as they think that this is normal, even though it can have a significant impact on a person’s quality of life.

Other symptoms may include frequent nose bleeds, spontaneous bleeding in the mouth, bruising easily, bleeding in the intestines, or an injury that takes time to clot.

Sometimes, a diagnosis is only made after a serious injury, surgical procedure, or childbirth due to excessive bleeding. Diagnosis is made by a specific blood test that measures the activity and level of VWF and Factor 8 in the blood. The blood test should be done at different time points, as levels can vary during stress, menstruation, or other bleeding events.

VWD is a life‑long condition with no cure, but treatments are available. Treatments aim at improving how blood clots or increasing the amount of VWD in the blood. Treatment will depend on the type of VWD you have and the severity.

It is important to find a treatment centre that specialises in bleeding disorders to get advice on appropriate treatment and how to manage the condition, especially during planned surgeries and pregnancy.

References

·      VWD Guidelines: Diagnosis and Management. https://elearning.wfh.org/resource/ash-isth-nhf-wfh-guidelines-on-the-diagnosis-and-management-of-vwd/?_gl=1*8x0jtf*_ga*MTQ5NTM3NjI1OC4xNzA2NzkyOTkx*_ga_7974KH9LH5*MTcwNjc5Mjk5MS4xLjEuMTcwNjc5MzAyMC4wLjAuMA..&_ga=2.103739655.627497096.1706792991-1495376258.1706792991

·      European Haemophilia Consortium: von Willebrand Disease. https://www.ehc.eu/bleeding-disorders/vwd/

·      National Bleeding Disorders Foundation (Formerly NHF) https://www.hemophilia.org/educational-programs/education/von-willebrand-disease

·      EHCucate: Patient education app for rare bleeding disorders. https://www.ehc.eu/library-2/ehcucate/

·      EHC VWD Awareness Day. https://www.ehc.eu/european-von-willebrand-platform/vwd-awareness-day-2024/

Image: creative commons licence