Improve Diagnosis and Care of von Willebrand Disease—by Spotting the Symptoms in Your Patients
Affecting as much as 1% of the general population, von Willebrand disease (VWD) is believed to be the most common bleeding disorder1,2; it is also commonly left undiagnosed.3 Diagnosis is critical, as care is necessary throughout the entire lifespan for individuals with VWD. The risk of prolonged uncontrolled bleeding can be life-threatening.
Results of computer modeling published in 2020 suggest that, within the fully insured US population, 35,000–387,000 patients may have symptomatic, undiagnosed VWD or other mucocutaneous bleeding disorders.3
When VWD is diagnosed, it’s often delayed—particularly in women. A CDC survey of women with VWD showed an average of 16 years between the onset of bleeding events that point to a diagnosis of a bleeding disorder. Women also reported an average of 6 bleeding symptoms before being diagnosed with VWD.1
Reasons for missed and delayed diagnosis in von Willebrand disease
A crucial challenge in diagnosing VWD is that many associated symptoms are common in the general population; so it can be difficult to identify bleeding symptoms that are abnormal or excessive. Moreover, because VWD can run in families, symptoms such as easy bruising, bleeding gums, and heavy periods often appear normal to family members and are therefore not recognized as potential signs of a bleeding disorder.4
Even once VWD is suspected, diagnosis may require repeat testing. This is especially true for people with type 1 VWD, which is the most common type and usually associated with milder symptoms.4,5 In the same CDC study of women with VWD, tests were carried out an average of twice (with a range of 1–20 times) to determine the diagnosis.1
Confirming a type 1 diagnosis tends to require repeat testing because VWD factor levels (the cause of VWD) can change depending on various circumstances such as4:
- Physical or emotional stress
- Use of birth control pills (hormonal therapy)
These circumstances can increase VWD factor levels, making it appear as if a patient doesn’t have VWD, when they actually do.4
So how can we promote earlier, accurate diagnosis of VWD?
Hematologists believe that multidiscipline healthcare providers may hold the key. In a study by Sidonio, Jr., et al. published in the Journal of Blood Medicine, authors emphasize the need for “continued health care practitioner education to increase VWD detection and diagnosis.”3
“Educational efforts to increase awareness of VWD symptoms and evaluation should focus on hospitalists/ER physicians, obstetrician/gynecologists, and primary care physicians—particularly those managing HMB [heavy menstrual bleeding] in women.”
-Sidonio, Jr., et al., J Blood Med, 20203
About von Willebrand disease
VWD is an inheritable bleeding disorder that occurs equally in women and men, across all races and ethnicities. The condition is named after the Finnish physician who initially described VWD in the 1920s, Erik von Willebrand. People with VWD have an issue with a clotting protein called von Willebrand factor (VWF).5
In order for blood to clot properly, VWF binds to factor VIII (another clotting protein) as well as platelets in the walls of injured blood vessels. This process helps form a platelet plug, which stops bleeding when an injury has occurred. If there is not enough VWF or it doesn’t work the way it should, the platelet plug will either not form or will form more slowly; this can lead to bleeding issues.5
Signs and symptoms of von Willebrand disease
Bleeding symptoms in von Willebrand disease tend to occur in mucous membranes or the skin. The most common symptoms in people diagnosed with von Willebrand disease include the following6:
- Nose bleeds
- Abnormal or easy bruising (also known as ecchymosis or hematoma)
- Bleeding of the gums
- Abnormal bleeding after surgery
- Gastrointestinal bleeding
- Excessive or prolonged menstrual bleeding—a critical issue in females that affects up to 95% of women with VWD
- Bleeding between periods (also known as metrorrhagia)
- Heavy bleeding or hemorrhage during or after childbirth
The Medical and Scientific Advisory Council of the National Hemophilia Foundation advises that VWD and other inherited bleeding disorders should be considered when evaluating all females who are seen by healthcare professionals for abnormal or excessive bleeding.
Certain signs and symptoms of VWD tend to occur during various stages of life. Obstetrician/gynecologists, primary care physicians, and ER and dental professionals should be on the lookout for the following symptoms at their corresponding life stages:
- During early school ages, look for an unusual number of nosebleeds
- During adolescence, look for heavy periods
- During late teens and college years, look for heavy bleeding with removal of wisdom teeth
- During childbearing years, look for heavy bleeding during or after childbirth
- During mid- to older adulthood, look for bleeding after procedures such as colonoscopy
Since VWD is an inherited disorder, once a patient is diagnosed, healthcare professionals should be sure to screen the entire family.
The importance of lifespan care
Individuals living with VWD require lifespan care, as the risk of prolonged, uncontrolled bleeding can be life-threatening. Surgeries—even simple procedures—need to be managed before and after with proper hematology consults.
In fact, bleeding disorders like VWD impact a patient’s care across the medical spectrum. Specifically, any healthcare provider treating a patient with VWD should be coordinating with a hematologist who specializes in bleeding disorders to ensure the patient receives safe and appropriate care. This includes coordinating care regarding travel, pregnancy and childbirth, dental visits, and all surgical and medical procedures (eg, colonoscopies).
Outstanding care at Indiana’s comprehensive von Willebrand disease treatment center
Nearly as important as lifespan care is selecting the best specialty center to provide it. As the state’s only federally designated comprehensive hemophilia treatment center, the Indiana Hemophilia and Thrombosis Center (IHTC) partners with external medical professionals to guide patients and their families through life events by leveraging advanced training in bleeding disorders.
The team at IHTC is recognized among the nation's leaders in research and clinical practices, combining nationally and internationally known practitioners from a wide variety of specialties. Within a state-of-the-art facility, the team utilizes a care model that acknowledges the whole person, including how VWD can impact areas outside the healthcare setting—such as work, school, and personal life.
Another defining element of IHTC is their highly individualized approach to treatment. Center physicians and other experts look at a patient’s specific disease subtype, lifestyle, bleeding and treatment history, and risk factors to develop a unique plan; the center’s compassionate staff then provides one-on-one guidance to help each patient manage their condition with confidence and minimize the impact on their daily life.
Additionally, IHTC’s comprehensive model ensures seamless continuity of care as patients move through various life stages. “It’s important to have a comprehensive approach to VWD patient care, both in traditional patient care and in the approach to life stage transitions,” notes Charles Nakar, MD, a pediatric hematologist-oncologist with IHTC who specializes in clotting and bleeding disorders like VWD. “It’s wonderful to watch my patients transition to an adult hematologist within the center, and our transition programs allow for great communication, education and care.
The IHTC faculty has also created resources to help other healthcare providers learn about VWD and determine when bleeding symptoms are abnormal or excessive:
The power to drive progress in VWD diagnosis
By keeping VWD top of mind and learning to spot the signs and symptoms in patients, clinicians like ER physicians, dental professionals, primary care providers, and obstetricians/gynecologists have the power to help increase the rate of VWD diagnosis. Working together with the experts at IHTC, these multidiscipline healthcare providers can help meaningfully improve care across the lifespan for patients with VWD.
Researchers note that there has already been progress—but there is still room to grow. According to Sidonio, Jr., et al., “Surveys of obstetricians/gynecologists suggest that while awareness of VWD as a possible cause of HMB has increased, there remains much opportunity for improvement.”
1. Data and Statistics on von Willebrand Disease. Centers for Disease Control and Prevention. Reviewed October 26, 2020. Accessed September 22, 2022. https://www.cdc.gov/ncbddd/vwd/data.html
2. Von Willebrand Disease. Hemophilia of Georgia. Accessed September 22, 2022. https://www.hog.org/handbook/section/1/von-willebrand-disease
3. Sidonio RF Jr, Zia A, Fallaize D. Potential Undiagnosed VWD Or Other Mucocutaneous Bleeding Disorder Cases Estimated From Private Medical Insurance Claims. J Blood Med. 2020;11:1-11. Published 2020 Jan 6. doi:10.2147/JBM.S224683
4. Von Willebrand Disease Diagnosis. Indiana Hemophilia & Thrombosis Center. Accessed September 22, 2022. https://www.ihtc.org/von-willebrand-disease-diagnosis
5. Von Willebrand Disease. National Hemophilia Foundation. Accessed September 22, 2022. https://www.hemophilia.org/bleeding-disorders-a-z/types/von-willebrand-disease
6. Signs and Symptoms of von Willebrand Disease. Indiana Hemophilia & Thrombosis Center. Accessed September 22, 2022. https://www.ihtc.org/von-willebrand-disease-signs-symptoms