One Percent of Americans Have Von Willebrand Disease: What Is It?

Most of us have become accustomed to life's bumps and bruises...and scrapes, cuts, sprains and strains. We've all had those clumsy times where life seems like nothing but a series of minor mishaps. We're able to ignore many of these injuries, while others are easily put right with a bandage or a few days' rest. But for children and young adults with abnormal reactions to life's accidents - including heavy bleeding, bleeding that doesn't stop, or very frequent bruising - testing for von Willebrand disease could be in order.

Von Willebrand disease (VWD) is a hereditary bleeding disorder, in fact, one of the most common bleeding disorders known: it affects about 1% of all Americans. The illness involves a protein in the blood called von Willebrand factor, or VWF, which helps our blood to clot. People with von Willebrand disease don't have enough of the factor available in their blood, or the VWF that is present doesn't perform effectively. Simple injuries can bring on heavier and longer bleeding episodes than usual or cause frequent bruises to form under the skin. Men and women can both have VWD, but women are usually more symptomatic, with heavy menstrual bleeding (menorrhagia) being a common symptom.

Symptoms
Dr. Robert Montgomery, Medical College of Wisconsin Professor of Pediatrics and Vice-Chair for Research in the Division of Pediatric Hematology/Oncology, Department of Pediatrics, recommends that the following symptoms be checked by a physician: "Recurrent nose bleeds; heavy menstrual bleeding (requiring changes of protection overnight or soiling during the day because of heavy menstrual flow); unexpected or explained postoperative bleeding; and bruising from unknown or minor trauma especially if there are lumps with the bruises." Dr. Montgomery reports that von Willebrand disease often goes undiagnosed, and that women and teenage girls with menorrhagia should always be tested for VWD before being placed on hormone therapy.

Although VWD is hereditary, symptoms can vary from one family member to another, and some family members might not even know they have the disease. Spontaneous cases can also appear occasionally. Even if symptoms are very mild, it's still important to be tested for the disorder. Those who are diagnosed with von Willebrand disease might need special medication to control bleeding; they may also need more blood than usual in case of an accident, for dental work, or during surgery.

Interestingly enough, Dr. Montgomery says, dogs get VWD too; about 65% of Dobermans have the disorder. "Our lab was the first to clone and sequence the dog gene for VWF. We are also setting up gene therapy studies in dogs and mice at the Medical College."

Testing
Testing for von Willebrand disease typically begins with a series of questions from one's health care providers. They will ask how often bleeding occurs, how the bleeding started and how long it lasts. Family medical history is also explored to appraise the genetic component of the bleeding disorders. A physical exam usually follows, during which blood is taken and sent to a lab for testing. Dr. Montgomery says that local testing for von Willebrand disease is done through a program between Children's Hospital of Wisconsin, the Blood Center of Southeastern Wisconsin, and the Medical College of Wisconsin. The program also serves as the national reference laboratory for this type of testing. "The testing in Milwaukee is the most advanced in the country", he notes, citing the use of blood tests and DNA sequencing at all three institutions in accordance with research protocols.

Treatment
Regarding the most common treatments for VWD, Dr. Montgomery says, "Most patients can be treated using a special nose spray (Stimate) that is given for minor bleeding, or by intravenous transfusion of a VWF concentrate."

Despite the seriousness of the illness, it's encouraging to know that health care providers understand more than ever about von Willebrand disease. Although symptoms can be easy to ignore in mild cases, testing is relatively easy and treatment is quite straightforward. As the experts at the Medical College of Wisconsin, the Blood Center of Southeastern Wisconsin and Children's Hospital of Wisconsin continue their research into VWD, patients around the country are learning that the finest care and treatment of von Willebrand Disease might be right here in Wisconsin.

MCW Health News presents up-to-date information on patient care and medical research by the physicians of the Medical College of Wisconsin.