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This photo displays a normal clotting cascade and one impaired by VWD.

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A person with VWD lacks functional or quantity of von Willebrand factor (VWF), a protein necessary to clot blood. VWF works with factor VIII to stick "blood-clotting factors together to form the prothrombin activator complex needed to convert prothrombin to thrombin in the blood-clotting cascade" (Beery et al., 2018, p. 223). Without the appropriate amount of VWF, blood clotting does not occur as quickly or effectively. This can lead to inefficient clotting and prolonged bleeding or hemorrhage. VWF also works to activate platelets, another important part of the blood involved in clotting.

According to the Centers for Disease Control and Prevention (2024), von Willebrand disease (VWD) is the most common bleeding disorder worldwide

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This photo displays the world map showing the highest prevalence of VWD in the United States, Brazil, and United Kingdom in 2023. 

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Affects 1% of the population or 3.2 million people worldwide (CDC, 2024).

Numbers are likely more as some forms of the disease have mild phenotypes and do not get diagnosed

Affects men and women equally, however women are more likely to report symptoms and become diagnosed due to heavy menstruation and hemorrhage during and after childbirth

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Since VWD is the most common bleeding disorder, it is important for both medical professionals and patients to recognize the signs so that proper diagnosis can be made and complications prevented.

VWD is generally a mild, treatable condition but can be life threatening when left undiagnosed. It could lead to life threatening hemorrhage after surgical procedures or post-partum

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Above is a short video that reviews symptoms of von Willebrand diease

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Longer than expected bleeding

from a surgical site/incision that may be intermittent over hours or days

from a cut that lasts more than 5 minutes

from a mother during or after childbirth

from mouth after dental work or extractions

Frequent, spontaneous nosebleeds that last longer than 10 minutes and may require intervention

Raised ecchymosis that is larger than a quarter

Abnormal bleeding in stool, urine, or in internal organs or joints

Heavy menstrual bleeding in females that last longer than one week and cause anemia secondary to blood loss

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This photo displays the protein structure of VWD 

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Beery et al (2018) reports 3 types of VWD

Type 1:

The most common, causing mild to moderate bleeding

Reduced amount of circulating VWF available in body

Type 2:

Second most common form, causing mild to moderate bleeding

VWF is defective and not operating correctly

Very difficult to diagnose because levels of VWF are normal and do no indicate an impairment

Type 3:

Rarest form, causes severe, sometimes life threatening bleeding

Extremely low VWF

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According to Beery et al (2018), the gene for VWF is located on chromosome 12p13.3 (OMIM, 2013b).

"Because the VWF gene is located on Chromosome 12, the most common forms of the disorder are from mutations in an autosomal dominant pattern" (p. 223).

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These graphs display the difference between Autosomal dominant and recessive inheritance.

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All three types vary with inheritance pattens, Beery et al (2018), discusses all three in more detail:

Type 1: Autosomal-dominant pattern of inheritance with reduced penetrance

Penetrance is how often a gene is expressed when it is present, so reduced penetrance means that people could have the mutated gene but have a decreased chance of expressing it

Since the dominant gene is not always expressed when a person has it, a family pedigree could manifest in a recessive pattern. The trait may not be present in every generation.

Since VWD is an autosomal-dominant trait, there is no carrier status

Interestingly, a person with type O blood type are more likely to express the gene

Type 2: Autosomal-dominant pattern of inheritance

This mode of inheritance ensures that everyone who has the mutated gene will express its phenotype.

On a family pedigree, the trait will be present in all generations

A person heterozygous for the trait will pass it along to their children 50% of the time while a person homozygous for the trait will pass it along to their children 100% of the time

Type 3: Autosomal-recessive pattern of inheritance

In order to express the trait for VWF, a person needs to be homozygous for the trait

On a family pedigree, the trait is not present in all generations and may skip generations.

There is a carrier status and a person that is a carrier can pass along the gene to their children even if they do not express the phenotype

*Acquired von Willebrand disorder (AVWD): Very rare, but sometimes the body can destroy its own VWF secondary to disease process such as Lupus or Multiple Myeloma (Tiede et al., 2011). This cannot be inherited by children.

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This chart is an example of the process of diagnosing VWD.

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1. Patient history

This involves discussing patient history of easy or heavy bleeding as well as discussing family history of bleeding disorders

2. Laboratory testing

Lab screenings can be completed to assess blood clotting ability, clotting times, and anemia (CDC, 2024). These labs include:

Activated partial thromboplastin time (APTT) test

Prothrombin time (PT) test

Fibrinogen test

Complete Blood Count (CBC)

There is not a single lab test to diagnose VWD but a series of labs are done and carefully correlated with each other to determine which type. According to Roberts and Flood (2015), labs that can help assess quantity and quality of VWF include:

VWF antigen

VWF ristocetin cofactor activity

Factor VIII activity

VWF multimer distribution

VWF collagen binding

VWF–platelet binding

Low-dose ristocetin-induced platelet aggregation

VWF-FVIII binding

VWF propeptide

VWF gene sequencing

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*VWD is often managed and treated by a Hematologist, or a doctor specializing in blood disorders.

According to Laffan et al. (2021), treatments for VWD are often only needed for management of bleeding episodes or for bleeding prophylaxis, treatments include:

1. Tranexamic acid: inhibits fibrinolysis, making it helpful to use in conjunction with mild procedures or bleeding episodes to prevent bleeding

2. Desmopressin: activates platelets and increases the release of functioning VWF and factor VIII from endothelial cells. Useful in treatment of type 1 VWD. Response of medication decreases with frequent use.

3. VWF concentrate: VWF replacement to increase levels of the deficient VWF.

4. Iron or blood transfusions: treat anemia from blood loss/menstrual cycles

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Desmopressin, one of the medications used to prevent bleeding, according to Svensson et al (2014):

Is an antidiurecic hormone

Increases the levels of VWF and Factor VIII 2-6 times by stimulating the extrarenal arginine vasopressin (AVP) V2-receptors in endothelial cells.

Hemostatic benefits aid those with hemophilia A, VWD, uremia, liver cirrhosis, and congenital or acquired platelet dysfunction

Can be administered subcutaneously, intravenously, and intranasally

Side effect include hyponatremia secondary to anti-diuretic effect with repeated doses

Used preventatively, before surgeries or procedures and also to treat acute bleeding

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This photo displays prophylaxis and treatment of post-partum hemorrhage. 

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VWD and Pregnancy

An article by Janbain and Kouides (2022) discusses management of VWD and pregnancy.

Women with type 1 can have an increase in VWF and improvements in symptoms

Women with type 2 can also have an increase in VWF but as they are defective, it is not as beneficial

Women with type 3 do not typically have an increase in VWF and remain low throughout their pregnancy.

Although levels of VWF can increase during pregnancy, VWD still poses concerns for pregnancy women. In fact, there is "a 5-40% prevalence of PPH [post-partum hemorrhage] compared to the 2-10% prevalence in the general population" (p. 1309).

Pregnant women need lab monitoring during pregnancy, if factor levels decrease to less than 50%, possible factor replacement is needed. If factor replacement is initiated, levels must be closely monitored to prevent thrombosis (Janbain & Kouides, 2022).

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This photo shows the components of O- Blood type

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According to Beery et al (2018), patients with O blood type are more likely to express the VWD phenotype.

A study done on trauma patients by Takayama et al (2018) revealed a positive relationship between poor outcomes and O blood type

Results showed that trauma patients with O blood type required more blood transfusions than other blood types

It was reported that "patients with blood type O had 25-30% lower plasma von Willebrand factor (vWF) levels than the those with non-O blood, increasing their risk of hemorrhage" (Takayama et al., 2018).

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Beery, T. A., Workman, L. M., & Eggert, J. A. (2018). Genetics and genomics in nursing and health care. F.A. Davis Company.

Centers for Disease Control and Prevention. (2024, May 15). About von Willebrand disease. Centers for Disease Control and Prevention. https://www.cdc.gov/von-willebrand/about/index.html

COR2ED The Heart of Medical Education. (2022). When to consider von Willebrand disease. YouTube. https://www.youtube.com/watch?v=z4U0GKKrUOk&t=1s

Janbain, M., & Kouides, P. (2022). Managing Pregnant Women with Hemophilia and von Willebrand Disease: How Do We Provide Optimum Care and Prevent Complications? International Journal of Women’s Health, 14, 1307–1313. https://doi.org/10.2147/IJWH.S273043

Laffan, M., Sathar, J., & Johnsen, J. M. (2021). von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis. Haemophilia : The Official Journal of the World Federation of Hemophilia, 27(S3), 66–74. https://doi.org/10.1111/hae.14050

Roberts, J. C., & Flood, V. H. (2015). Laboratory diagnosis of von Willebrand disease. International journal of laboratory hematology, 37 Suppl 1(Suppl 1), 11–17. https://doi.org/10.1111/ijlh.12345

Svensson, P. J., Bergqvist, P. B. F., Juul, K. V., & Berntorp, E. (2014). Desmopressin in treatment of haematological disorders and in prevention of surgical bleeding. Blood Reviews, 28(3), 95–102. https://doi.org/10.1016/j.blre.2014.03.001

Takayama, W., Endo, A., Koguchi, H., Sugimoto, M., Murata, K., & Otomo, Y. (2018). The impact of blood type O on mortality of severe trauma patients: a retrospective observational study. Critical Care (London, England), 22(1), 100–100. https://doi.org/10.1186/s13054-018-2022-0

Tiede, A., Rand, J., Budde, U., Ganser, A., & Federici, A. (2011, June 23). How I treat the acquired von Willebrand syndrome . American Society of Hematology. https://ashpublications.org/blood/article/117/25/6777/24352/How-I-treat-the-acquired-von-Willebrand-syndrome

Photos

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Annual Global Survey

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Blood Types Explained - A, B, AB and O | Red Cross Blood Services

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