One of the hereditary bleeding disorders that falls within the mission of the National Hemophilia Foundation (NHF) is von Willebrand disease (VWD). While VWD was identified and subsequently reported by Dr. Erik von Willebrand in 1926, our real understanding and appropriate treatment became possible when, in the 1970s, von Willebrand factor (VWF) and FVIII (antihemophilic factor) were found to be two distinct proteins that circulated in plasma as a single complex but were genetically separate proteins. Although VWD affects both males and females, females are more symptomatic because of heavy menstrual bleeding. Diagnosis of VWD can be quite complex and requires much more diagnostic testing than hemophilia.
My laboratory has had a long-term commitment to studying the VWF protein, diagnosing VWD and using that understanding to develop a new gene therapy for hemophilia A (even with FVIII inhibitors).
To that end, I am a current member of NHF’s Medical and Scientific Advisory Council (MASAC). The group comprises 30 experts on bleeding disorders, blood safety and infectious diseases. Members volunteer their time, communicate regularly and meet twice a year to develop recommendations, which are then sent to the NHF Board of Directors for approval.
MASAC has played a special role in VWD education, working closely with the National Institutes of Health (NIH) to develop the first US guidelines in 2007. Members of MASAC are currently pursuing an update of these guidelines following a VWD Strategic Summit held in 2014.
The complexities of VWD diagnosis and treatment require the evaluation and management by a hemophilia treatment center, a trained hematologist, and the dedication of NHF and MASAC.
Among many other accomplishments, MASAC expanded the community to serve all people with bleeding disorders—including those with VWD—and has issued more than 400 communications to medical personnel and those with bleeding disorders. (See “Above and Beyond.”) The VWD community will continue to be well represented on MASAC as we work to research and revise previous recommendations.
Dr. Robert Montgomery is a current member of MASAC. He performs research at the Blood Research Institute and the Comprehensive Center for Bleeding Disorders at the BloodCenter of Wisconsin in Milwaukee. He is past chair of the NHF Research Review Committee and chairs the review of the Baxalta Clinical Fellowship Program. He received the 1991 Dr. Murray Thelin Award and the 2011 Leadership in Research Award from NHF.