In February 2008, the National Heart, Lung, and Blood Institute (NHLBI), one of the National Institutes of Health, released the first US clinical guidelines for diagnosing and treating von Willebrand disease (VWD).
VWD is the most common bleeding disorder; an estimated 1%–2% of the US population have it. VWD is characterized by low levels of von Willebrand factor (VWF) protein in the blood, or by VWF that has an abnormal structure or function and doesn’t work the way it should.
“Because it is under-recognized and difficult to diagnose, many people with VWD may not realize they have it, which is why the National Hemophilia Foundation (NHF) has long focused efforts on educating the public and health professionals about this serious and potentially life-threatening disease,” says Howard A. Balsam, former interim CEO at the NHF. “We are pleased that the NHLBI guidelines will help to elevate public awareness of this important health issue and provide the medical community with evidence-based direction on how to detect and manage VWD.”
Among the key screening recommendations is that providers take a complete medical history. If it suggests the presence of a bleeding disorder, a sequence of blood tests should be ordered. Since treatment options depend on the type and severity of the disease, knowing your specific type of VWD is very important. The authors also stress the need to avoid over-the-counter medications that can affect blood clotting, such as aspirin and other nonsteroidal anti-inflammatory drugs.
A “Script” for Diagnosis and Treatment
“Clinical guidelines are a script for diagnosing and treating a particular disease,” says Vincent Picozzi, MD, a hematologist and oncologist at Virginia Mason Medical Center in Seattle. “They are constructed by physicians based on a combination of both the scientific literature and their expert opinions.”
Two of the reasons to publish guidelines are to call attention to a disease, and to increase awareness in both medical and consumer communities. This is especially important with VWD, which can be difficult to diagnose.
“A problem faced by many consumers is the lack of awareness on the part of medical professionals about bleeding disorders in general and VWD in particular,” says Andra James, MD, MPH, director of the Women’s Hemostasis and Thrombosis Clinic at Duke University Medical Center in Durham, North Carolina. She also is a member of the Medical and Scientific Advisory Council of the National Hemophilia Foundation and its Project Red Flag’s Women with Bleeding Disorders Task Force. “Information that, prior to the publishing of the guidelines, was spread out in medical journals and other places has been compiled in one place along with the experts’ judgments about the quality of the data. These guidelines give direction on diagnosis and treatment to primary care doctors, gynecologists and even general hematologists.”
The guidelines’ screening recommendations include which blood tests to order, and in what sequence, to arrive at a diagnosis efficiently. They suggest starting with standard blood tests, such as complete blood counts and prothrombin time, and then adding more specialized tests, such as an assessment of protein present in plasma and how well the VWF works. Other sections of the guidelines address medications and treatment options.
Understanding Standards of Care
“A person with VWD can now look at the document and get a good idea of what to expect, what the standard of care is,” says Picozzi. This helps the patient better understand the diagnosis and its treatment protocol.
The guidelines also address the concerns of women. Although VWD affects both genders equally, females have a special set of concerns revolving around their menstrual periods and childbirth.
“When a woman has a bleeding disorder, it is often much more difficult to find,” says James. “Because of the monthly cycle and childbirth, women are disproportionally affected by VWD.”
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The guidelines provide a form of quality control that can be important to consumers. How well a practice or a physician adheres to the standard can be measured. In addition, the guidelines are often used as an insurance reimbursement tool. Treatments recommended in them are usually more readily covered by insurance companies.
Guidance for Further Research
“Another thing guidelines do very well is tell us what is known about a disease and what isn’t known,” says Picozzi. “The results illustrate gaps in knowledge and help set research priorities.”
The authors identified some pressing research and education needs. These include a better understanding of the reason VWF levels do not always account for individual variations in symptoms, as well as the role of prophylaxis in VWD. Further, the authors identified a need for wider availability of laboratory testing sites and more research into using gene sequencing to help establish subtypes of the disease.
The NHLBI guidelines on VWD educate community-based doctors on the management of a disease they do not see often, says Picozzi: “Guidelines can be a useful educational resource for these physicians to remind them how best to manage a person with VWD.”