Von Willebrand Disease: Causes, Symptoms, Treatment, and More
VWD is a common yet often underdiagnosed genetic bleeding disorder affecting men, women, and children. Factor replacement therapy and other medications can prevent bleeds and improve symptoms.
When it comes to inherited bleeding disorders, hemophilia may be first to come to mind. However, von Willebrand disease (VWD) is much more prevalent. In fact, it is the most common of all inherited bleeding disorders.1 Despite this, VWD patients still encounter barriers to treatment and care, sometimes due to a lack of awareness and familiarity with VWD.2 Supporting patients with VWD requires an appreciation for its unique characteristics, including causes, symptoms, and treatments.
Who VWD Affects
VWD is a rare disease affecting approximately 1% of people in the U.S., including both men and women equally.1 Normally the body produces a protein in the blood called von Willebrand factor, which plays multiple roles to ensure blood clots properly. In VWD there is a problem with this protein. These causes are divided into three major types (with additional subtypes):2
- Type 1: Mild to moderate quantitative deficiency. There is not enough von Willebrand factor (VWF) present to clot properly.
- Type 2: Qualitative deficiency. There is von Willebrand factor present, but it is not functioning correctly.
- Type 3: Major quantitative deficiency. There is very little to no von Willebrand factor present.
This description is only a summary, and it is important to highlight that the cause of VWD is complex. Hematologists and other providers specializing in bleeding disorders use diagnostic tests and expert interpretation of results to determine the exact type and subtype of VWD to pinpoint treatment needs. Levels of VWF do not always correlate with severity of disease.2
Von Willebrand Symptoms
Symptoms can range in type and severity but often include spontaneous and/or easily triggered excessive bleeding of mucous membranes and skin. This includes bleeding from the gums, nose, gastrointestinal tract, as well as bruising and bleeding from minor injuries. Women may experience heavy bleeding with menstruation or childbirth. Severe cases of VWD include muscle and joint bleeds, which can result in serious long-term consequences if untreated.1-3
Treatments and Therapies
Although there is no cure for VWD, there are multiple treatments that can help to prevent and treat symptoms.3 The missing or defective VWF protein in the blood can be replaced using factor replacement therapy. These products are infused directly into the bloodstream and may be given routinely to prevent bleeding, or they can be given when needed in response to a bleeding episode. The decision to use factor replacement therapy and how often is a discussion between the provider and the patient or caregiver. Specialty pharmacists and nurses can provide additional counseling and education, as well as contribute support throughout therapy.
The Role of Hematologists
When patients with VWD have a surgical or dental procedure, factor infusions may also be given prior to and following the procedure to keep bleeding under control. Ideally, VWD patients’ hematologists should be part of the consultation in advance of procedures as early as possible to develop treatment plans. Often there are multiple steps necessary to obtain authorization and ensure availability of factor replacement therapy or other specialty medications, which take time and coordination. Women with VWD planning to become pregnant should also consult with their provider first.3
Other Medications
Additional treatments are also available and include medications that stabilize blood clots or stimulate the release of VWF. These medications can be taken by mouth, injected, applied topically, or delivered as a nasal spray, but there is no “one size fits all approach.” What may be indicated for one person with VWD may be contraindicated in another patient. This is why it’s important for patients to consult with a hematologist, or specialist in bleeding disorders, for treatment recommendations.
Specialty Pharmacy
Specialty pharmacists and nurses have a unique opportunity to deliver customized, high-touch care through understanding symptoms, causes, and treatments specific to VWD. This knowledge creates the foundation necessary to work collaboratively with providers, patients, and other members of the multidisciplinary care team to ultimately provide people with VWD the specialized care they require.
Therapy Without Delay
Contact a PromptCare team member to learn more:
866-776-6782
References
- Centers for Disease Control and Prevention. Data and Statistics on von Willebrand Disease. Published 2024 May 15. Accessed 2024 Dec 12. https://www.cdc.gov/von-willebrand/data/index.html.
- Colonne CK, Reardon B, Curnow J, Favaloro EJ. Why is Misdiagnosis of von Willebrand Disease Still Prevalent and How Can We Overcome It? A Focus on Clinical Considerations and Recommendations. J Blood Med. 2021;12:755-768. Published 2021 Aug 17. doi:10.2147/JBM.S266791
- Connell NT, Flood VH, Brignardello-Petersen R, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021;5(1):301-325. doi:10.1182/bloodadvances.2020003264
