It’s been four years since the National Hemophilia Foundation (NHF) held a strategic summit on von Willebrand disease (VWD) in Washington, DC, to raise awareness and improve care for the more than 3 million Americans who have VWD—the most common inherited bleeding disorder in the US.
While there’s been greater coverage in the media about VWD, and increased knowledge about the disorder among primary care doctors and other healthcare professionals, there’s still some information about VWD that isn’t as well known, even among patients who have been diagnosed with the condition.
• Severe VWD is more than just type 3
Type 3 VWD, in which the body makes little or no von Willebrand factor, is the rarest form of the disorder, affecting roughly 300 to 400 people in the US, and it’s also the most severe. Type 1, by contrast, is considered the mildest and most common form. Approximately 85% of people who are treated for VWD have type 1. But people who have specific subtypes of either type 1 or type 2 VWD can also have severe VWD, says Jeanette Cesta, founder and executive director of VWD Connect Foundation Inc., a national nonprofit that focuses specifically on severe VWD.
“Certain patients with type 1 and type 2 VWD can have bleeding issues that are just as serious as people with type 3, so that mindset that only type 3 is severe is what can lead to inappropriate care for some patients,” says Cesta.
Cesta says she founded VWD Connect in 2017 to meet the unique needs of patients with severe forms of VWD. The organization held its second annual conference in June. “These are patients who are having major bleeding issues, and they are looking for guidance about prophylaxis and how to preserve their joints—information that’s mainly found in materials for patients with severe hemophilia,” she says.
• More research on VWD is underway
“Many people think that there isn’t much research being conducted on von Willebrand disease, but there are more studies going on now than there were five years ago,” says pediatric hematologist Robert F. Sidonio Jr., MD, clinical director of hemostasis/thrombosis for the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta.
One of the challenges of researching VWD, and type 3 in particular, is finding patients to participate. “If you have a study of 100 people with type 3 von Willebrand disease, it instantly becomes the biggest in the world,” says Sidonio, who is currently enrolling patients in a new study that will characterize the genotype and phenotype of severe VWD patients in the US.
Some VWD studies have been going on for several years, such as the Zimmerman Program for the Molecular and Clinical Biology of VWD, which is led by Robert Montgomery, MD, at the BloodCenter of Wisconsin. The study has enrolled more than 1,300 patients from treatment centers across the country. At the Bleeding & Clotting Disorders Institute in Peoria, Illinois, Jonathan Roberts, MD, has been investigating new, less expensive diagnostic tests for VWD.
Patient advocacy groups are applauding these developments. “For many of the questions that we ask about treatment, the answer has been, ‘We think so, but we don’t know for sure because we’ve never studied it in VWD,’” says Cesta. “Now that more women and men with VWD are coming forward to participate in research, we can start to get more definite answers.”
• Pregnancy and childbirth can be safely managed
For young women with VWD, especially those who have the severe types of the disease, a big concern is whether they can safely have children.
“At our first VWD Connection conference in 2017, one of the attendees was pregnant and she was very concerned about labor and delivery,” says Cesta. “It was so reassuring for her to be able to meet mothers with severe VWD who have experienced childbirth and to learn that, with the right medical care, it’s absolutely possible to safely give birth. And when we all got together at the NHF Annual Meeting a few months later, she brought her new baby!”
Since many women with VWD may not have easy access to hematologists and ob/gyns who are specialists in bleeding disorders, the Foundation for Women & Girls with Blood Disorders has created a Learning Action Network (LAN) of experts in reproductive tract bleeding who can provide consultation to obstetricians who are caring for a patient with VWD. Visit the foundation’s website to learn more about the LAN.
Finally, it’s worth mentioning that men can have VWD too. “One of the biggest misperceptions about VWD is that it’s only a woman’s disease, when in fact it occurs in men and women in equal numbers,” says Sidonio. “However, studies show that in every age group other than 0 to 15, VWD is diagnosed much more commonly in women than in men,” he adds. “It makes sense, given that women have a chance to bleed every single month, while a man may go for much longer periods of time without having any bleeding events.”
New VWD Guidelines Coming in 2020
While the first clinical guidelines for VWD, released in 2008, were created by a single entity—the National Heart, Lung, and Blood Institute—the updated guidelines currently in the works are being developed by representatives from four groups: NHF, the American Society of Hematology, the International Society on Thrombosis and Haemostasis, and the World Federation of Hemophilia.
“The great thing is that all of these groups got together and decided that rather than producing a bunch of separate guidelines that may potentially contradict each other, it’s much better to have an international group of physicians, patients and advocacy group members working together on creating one unifying guideline,” says Robert F. Sidonio Jr., MD.
Find out more about VWD Connect Foundation: vwdconnect.org
Visit the Foundation for Women & Girls with Blood Disorders: fwgbd.org