Less well known, but more than 100 times more prevalent than hemophilia, von Willebrand disease (VWD) is the most commonly inherited bleeding disorder, affecting 1 to 2 percent of the population — or approximately 3 million people in the United States.
Although the genetics of VWD are still being researched, parents need to know that there are several types of VWD, categorized as type I, II, A or B, and type III. Whether or not a child inherits VWD or a particular subtype of the disorder depends on two factors: whether one or both parents have a defective VWF (von Willebrand factor) gene; and whether the parents pass down a normal or defective VWF gene to the child. If Mom or Dad have any reason to suspect they have a bleeding disorder, or if someone in their family is affected, genetic counseling can be helpful in terms of understanding the implications for future pregnancies.
The most common symptoms of VWD are easy bruising, frequent and prolonged nosebleeds, heavy menstrual periods, and prolonged bleeding following dental work, surgery, childbirth or injury. According to Renee Paper, R.N., author of the newly released A Guide to Living with von Willebrand Disease, many people with the disorder, which affects males and females in equal numbers, remain undiagnosed and untreated. Proper diagnosis has been difficult because many healthcare providers themselves are unfamiliar with the disorder; there is great variability in the presenting symptoms and severity of the disease; and routine laboratory testing does not reveal the presence of a bleeding disorder. Special blood tests are needed to make or confirm the diagnosis of VWD.
Unfortunately, the diagnosis of VWD is often missed by obstetricians and gynecologists, even after their women patients complain of heavy menstrual bleeding or experience excessive bleeding after childbirth. Many women have undergone unnecessary surgical procedures because the true cause of their heavy menstrual periods was not correctly diagnosed.
Through the lifespan
Bruising, or bleeding under the skin, is a common symptom of young infants and children with von Willebrand disease; it is generally harmless, but can still be upsetting. Some parents have actually been accused of child abuse when medical professionals have seen the bruises, so once your child has been diagnosed with VWB, it is important to have the child wear a MedicAlert bracelet, and for you to carry a letter from your child's hematologist. Some infants or toddlers may experience mouth or gum bleeding as part of the teething process, which can generally be controlled by the application of cold compresses or having the child suck on a popsicle.
According to Steven Arkin, M.D., a physician affiliated with Mount Sinai Hospital, and the Division of Pediatric Hematology/Oncology at Schneider Children's Hospital in New Hyde Park, Queens: "Infants and toddlers are still mastering motor control of their bodies and remain likely to fall or bump themselves. Parents must accident-proof the home and establish mechanisms for accessing expert hematologic care on those occasions when the child encounters bleeding episodes related to their von Willebrand disease. Because these children still need to grow and explore to achieve their full potential, parents must resist the temptation to overly restrict their youngsters activities by creating an overprotective cocoon."
For the school age child (ages 6-12) and adolescents, participation in physical activities and sports is an important way of encouraging independence, promoting teamwork and enhancing self-esteem and a healthy body image. "The majority of people who have von Willebrand disease have a mild or moderate form," says Mozafar Salemi, M.D., director of pediatrics at Mary Immaculate Hospital in Jamaica, a part of the St. Vincent Catholic Medical Center. "Before determining what restrictions or precautions are needed for their children to participate in sports, parents must know the extent and severity of their child’s' disease and how the clinical manifestations vary."
The National Hemophilia Foundation provides an exercise guide for people with bleeding disorders, rating the benefits for each activity against the risk of injury, and giving guidelines for the use of protective gear such as helmets, protective guards, and knee or elbow pads. For children with the more severe form of VWD, contact sports such as football, hockey, wrestling and lacrosse are generally contraindicated.
Both adolescent girls and women can suffer from menorrhagia, heavy menstrual periods lasting longer than seven days and/or requiring pads or tampons to be changed more frequently than every two hours. This past December, the American College of Obstetricians and Gynecologists (ACOG) issued a committee opinion recommending von Willebrand screening for adolescents and adult women with menorrhagia. "The publication of this opinion is (another) step in helping the millions of women with VWD get diagnosed and treated," says Paula Elbirt, M.D., a New York City pediatrician and chair of the National Hemophilia Foundation's Women with Bleeding Disorders Task Force.
Bleeding in patients with VWD can be prevented and treated by the administration of certain medications. DDAVP (desmopressin), which helps to shorten bleeding time and promote clotting, can be administered either by injection or by nasal spray, and is the preferred treatment for most people with the less severe forms of VWD. Factor concentrate (known as Humate-P, Koate-HP, and Alphanate), a medicine made from human plasma, and which contains a specific clotting factor needed by WVD patients, is used for major bleeding episodes. Both DDAVP and/or factor concentrate may be given preventively before dental work or surgery, and are also often administered at the time of a bleeding episode or traumatic injury. Anti-fibrinolytic agents, which prevent the premature dissolving of blood clots, may also be administered after surgery. Heavy menstrual bleeding can be treated with oral contraceptives, other hormonal preparations or the high-potency nasal spray called Stimate (desmopressin).
Dr. Arkin points out: "While parents must take basic precautions to insure their child's safety, many children with VWD can participate in the full range of activities in which children normally participate." Early diagnosis of VWD is essential so that the appropriate medical treatment can be given to treat or prevent bleeding episodes, allowing youngsters with von Willebrand disease to lead happy and healthy lives.