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Guidelines intended to accelerate diagnosis, improve management of von Willebrand disease
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Several organizations have collaborated to develop clinical practice guidelines for the diagnosis and management of von Willebrand disease.
von Willebrand disease, the most common inherited bleeding disorder, affects 1% of people worldwide.
Gynecologic manifestation is most common, causing heavy menstrual periods for women. Other symptoms range from nosebleeds to bleeding in joints.
However, diagnosis often is delayed due to lack of awareness.
“The complex clinical presentation of von Willebrand disease is a challenge for hematologists and referring physicians. Many patients remain undiagnosed until they experience a severe bleeding episode that could otherwise have been prevented,” ASH President Alexis A. Thompson, MD, MPH, hematology section head and chair of childhood cancer and blood diseases at Ann & Robert H. Lurie Children’s Hospital of Chicago, said in a press release.
That’s why representatives of ASH, International Society on Thrombosis and Haemostasis, National Hemophilia Foundation, World Federation of Hemophilia and University of Kansas Medical Center agreed to collaborate. An international team of expert panelists, along with patient representatives, will develop evidenced-based guidelines that provide clear recommendations intended to ensure timely diagnosis and appropriate symptom management.
HemOnc Today spoke with Paula James, MD, FRCPC, professor and hematologist in the department of medicine at Queen's University in Kingston, Ontario, about the prevalence of von Willebrand disease, the reasons why awareness may be lacking, the need for clinical guidelines and how they may improve patient outcomes.
Question: Can you provide some background about von Willebrand disease?
Answer: von Willebrand Disease is the most common inherited bleeding disease, but there remains a lack of awareness or understanding among both the general public and physicians. Everyone has heard of hemophilia, but the magnitude of that disease is actually less than von Willebrand disease. Men and women are affected equally in terms of inheritance of this disease, but clinicians generally end up diagnosing two or three women for every man. This is because one of the primary manifestations of this disease is heavy menstrual periods, along with bleeding after childbirth. However, there are a number of other symptoms and manifestations, including easy bruising, as well as bleeding from mucus membranes like the mouth and the gastrointestinal tract. Patients also may bleed after dental work or surgery, and nosebleeds are often a big problem in children. So there are a variety of symptoms. One of the reasons we started this guideline process is because a lot of challenges remain for patients in terms of disease recognition and diagnosis. The goal is to standardize the approach to improve patient access to diagnosis and, therefore, improve access to appropriate care.
Q: What constitutes appropriate care?
A: There are a number of management options for von Willebrand disease. If a woman has heavy menstrual periods, you have to think about gynecological treatments, which may include an oral contraceptive pill, an intrauterine device, or surgical procedures such as endometrial ablation or hysterectomy. There are medications to help prevent clot breakdown, such as tranexamic acid. Appropriate care also can include increasing plasma concentrations of von Willebrand factor through use of a medication called desmopressin. Another approach is to replace von Willebrand factor with human plasma-derived or recombinant concentrates. It is important to treat patients appropriately, and treatment needs to be individualized.
Q: Can you discuss outcomes?
A: Many of these patients are at risk for iron deficiency. Preventing and treating iron deficiency is a way to improve quality of life. For children with this disease, frequent nosebleeds interrupt class and can be scary for both children and teachers. Our focus is to look at quality-of-life parameters. In the most severe cases, if you bleed into muscles and joints, you can end up with bad arthritis.
Q: Why are clinical practice guidelines necessary for this disease?
A: The first reason is to clarify that it is more prevalent than hemophilia. Clinicians need to understand that these patients don’t always get worked up properly. Doctors don’t always recognize that the bleeding symptoms of these patients are abnormal when they seek medical attention. In particular, women with gynecological symptoms often are discounted. They are told it is normal to have heavy periods. Because of this, it can take up to 10 or 15 years for these patients to get diagnosed. The goal of the guideline is to shorten that time. Although it is the most common inherited bleeding disorder, in terms of the general population, it is still quite rare. There could be more data and research about how to optimally treat these patients. As a result, we see variability from practice to practice in managing these patients. We are trying to address all of these issues.
Q: If this is the most common inherited bleeding disease, why is there still a lack of awareness about it among physicians?
A: In contrast to hemophilia, which we have known about for centuries, von Willebrand disease was only discovered in the early 1900s. There has been more recent research into the causes, but we are still learning about it. Another barrier to appropriate care is that the most common symptom is heavy menstrual bleeding. There remains some social stigma with discussing this openly. Because of that, patients don’t always have a frame of reference for what is abnormal. We are trying to educate people that periods lasting more than 7 days are abnormal. Most people don’t know that. Also, the lab work for this disease can be tricky. There are lot of layers to this.
Q: Who will serve as expert panelists?
A: There will be two panels. One will be focused on diagnosis, and the other will focus on management. ASH worked closely with the collaborating organizations. All four organizations nominated experts to be on the panels, and then ASH went through the process of vetting the nominations. The panels include a mix of hematologists, pediatricians and scientists. Importantly, we also have seven patient representatives who can speak to the reality of living with this disease. This includes four representatives on the diagnosis panel and three on the management panel.
Q: What will the guideline content cover?
A : In general, we are thinking about how to accurately diagnose and classify the disease, and how to respond to bleeding when it happens. We are thinking about how to prevent bleeding. We are thinking about the specific challenges for women. We are thinking about dealing with bleeding in surgical and dental situations, if patients need such a procedure.
Q: Is there a timeline for publication of the guidelines?
A: Some point in the next 2 years may be feasible — possibly by summer 2020. – by Rob Volansky
For more information:
Paula James, MD, FRCP, can be reached at Queen’s University, Room 2015, Etherington Hall, 94 Stuart St., Kingston, Ontario K7L 3N6; email: jamesp@queensu.ca.
Disclosure: James reports conducting industry-funded research on von Willebrand factor pathobiology but not the diagnosis of von Willebrand disease. She reports no direct conflicts of interest with this guidelines project and has agreed to avoid direct conflicts — such as direct payments from industry — throughout the guideline development process.