On Friday, February 29, 2008, the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health, issued the first U.S. clinical guidelines for diagnosing and managing von Willebrand disease (VWD). The guidelines provide recommendations on screening, diagnosis and evaluation, disease management and future research.
VWD is the most common bleeding disorder, affecting men and women equally. An estimated 1%-2% of the U.S. population has VWD, but many people are currently undiagnosed. VWD results from a qualitative defect (abnormal structure or function) or quantitative defect (decreased amount) of von Willebrand factor, a protein that binds factor VIII, a key clotting protein, and platelets in the blood vessel wall. Without it, the body is unable to form a platelet plug, which is necessary for blood clotting. There are three main types of VWD: types 1, 2 and 3, all caused by a genetic mutation in a gene on chromosome 12. A fourth type, acquired VWD, is not hereditary. The main symptoms are skin or mucous membrane bleeding, such as easy bruising, frequent nosebleeds; or gum bleeds and heavy, prolonged menstrual periods (menorrhagia). Other symptoms include prolonged bleeding after childbirth, surgery, tooth extraction or tonsillectomy.
“These are the first guidelines on von Willebrand disease published in the United States and we are pleased to offer clinicians science-based recommendations in the evaluation and treatment of patients,” said Elizabeth G. Nabel, MD, NHLBI Director. “The disease can be difficult to diagnose, especially in women of child-bearing age and in children, and the danger of excessive bleeding is often under-recognized.”
Within the guidelines are screening recommendations for physicians, including taking a complete medical history and physical exam, and ordering necessary blood tests for evaluation when VWD or another bleeding disorder is suspected.
“The guidelines provide physicians with recommendations for diagnosing and treating the three major types of VWD,” said William L. Nichols, Jr., MD, Associate Professor of Medicine at the Mayo Clinic in Rochester, MN. He served as chair of the NHLBI von Willebrand Disease Expert Panel, which comprised one basic scientist and nine physicians—one family physician, one obstetrician/gynecologist, and seven hematologists with expertise in VWD. “While von Willebrand disease cannot be cured, it can be treated,” Nichols added. “Proper diagnosis is important, and with the right treatment plan, even people with type 3 VWD, the most serious form, can live active lives.”
Until now VWD treatment guidelines had been published for providers only in Canada, Italy and the UK. To access the guidelines, visit the NHLBI Web site. The February 29, 2008 issue of the journal Haemophilia discusses the guidelines at length.
Source: NHLBI Web site, accessed 2/29/08