von Willebrand Disease Information Sheet
A Brief History
von Willebrand disease (vWD) is thought to be the most common hereditary bleeding disorder, affecting up to 3% of the U.S. population. vWD was first recognized in 1925 by Erik von Willebrand, a Finnish physician, who described a new type of bleeding disorder in inhabitants of the Cland Islands. Using simple laboratory equipment, von Willebrand observed that his patients had an abnormality in blood platelet function. We now know that their platelets behaved abnormally because their plasma lacked von Willebrand factor. von Willebrand factor helps platelets adhere to damaged blood vessels to form a platelet plug, an integral aspect of hemostasis. von Willebrand factor also serves as a carrier protein for plasma factor VIII.
vWD affects men and women in equal numbers, but it does not affect them equally. Because the most common symptoms of vWD in women (heavy and prolonged menstrual periods) are often misunderstood to be a gynecologic rather than a hematologic problem, the risk of misdiagnosis and undertreatment poses a greater health concern for women than it does for men.
vWD in its mildest form can cause an inconvenience for women. They may require pre-treatment for certain dental procedures, surgery, or child birth. But for women with moderate to severe vWD, the bleeding disorder can be debilitating and potentially life threatening if undiagnosed and untreated.
The National Hemophilia Foundation (NHF) is the nation’s leading voluntary health agency representing individuals with hemophilia, von Willebrand disease, and other inherited bleeding disorders. Founded in 1948, NHF is dedicated to finding the cures for inherited bleeding disorders and to preventing and treating the complications of these disordersC through education, advocacy and research.
Questions and Answers
Q: What is the total number of patients with von Willebrand disease? How many are diagnosed and/or treated?
A: von Willebrand disease (vWD) affects up to 3% of the population. Half of these people are women. Twenty percent of people with vWD have moderate or severe disease and many have been diagnosed and receive treatment. The remaining 80% may be unaware of what is causing their symptoms and may have no idea that treatment is available.
Q: What causes vWD?
A: Blood is made up of many proteins, each of which plays a role in forming blood clots. When a person has a defect or deficiency in the clotting protein called von Willebrand factor, he or she has von Willebrand disease, which is an inherited disease.
Q: How is it diagnosed?
A: vWD is usually diagnosed by a hematologist, a doctor who specializes in blood diseases. The hematologist orders specialized tests that include bleeding time tests that measure how long it takes the patient to stop bleeding (which means a clot has formed) from a small cut. Proper diagnosis also involves a physical exam anda detailed medical history. Hematologists will also ask questions about bleeding episodes in other family members.
Q: How is von Willebrand disease treated and/or cured?
A: There is no cure for vWD, but it can be treated. Minor bleeds may not need treatment, but more serious bleeding problems (such as very heavy menstrual periods) can be regulated by taking birth control pills or other hormones. One of these is a synthetic hormone called desmopressin acetate. This prescription drug comes in an injectable form and a nasal spray and helps raise the level of vonWillebrand factor. People with severe or moderate vWD might not respond to these treatments, but they can be treated with clotting factor concentrate that contains von Willebrand factor.
Q: If it is easily treatable, why don’t physicians treat it when diagnosed?
A: vWD can only be treated if it is diagnosed. The most common presenting symptom for women with vWD is heavy and prolonged menstrual bleeding. Although these symptoms are caused by a problem with the blood, they are frequently misdiagnosed as gynecological problems by doctors who are not hematologists. Women with vWD who are misdiagnosed are often subjected to unnecessary procedures such as dilation and curettage (D&C) and/or hysterectomy. These procedures do not help the symptoms of von Willebrand disease and can make them worse.
Q: Why is vWD so often misdiagnosed?
A: There may be several reasons. First, despite its high prevalence, many physicians are simply unfamiliar with vWD. Second, because heavy periods are a common symptom in women, doctors usually assume this indicates a gynecologic problem. Third, most doctors assume bleeding disorders, like hemophilia, only affect males. Ironically, hemophilia, the best known bleeding disorder, affects only a fraction of the number of people affected by von Willebrand disease. Yet women are told over and over again, "You can’t have a bleeding disorder. Only males have bleeding disorders."
Q: How many unnecessary D&Cs or hysterectomies are performed each year that may have been prevented through proper diagnosis of vWD?
A: According to the U.S. Centers for Disease Control and Prevention (CDC), about 5% (approximately 28,000 women per year) of hysterectomies are performed for diagnosis of dysfunctional uterine bleeding. In some women, such bleeding might be caused by von Willebrand disease. Research is needed to determine the exact number of unnecessary hysterectomies related to vWD.
Q: What percentage of vWD patients require medication? Develop severe complications?
A: Approximately 20% of vWD patients require medication on an on-going basis (usually episodic, but countless others can require medication on an as-needed basis, usually infrequently. Anyone with undiagnosed vWD is at risk for complications when involved in significant trauma or surgery.
Q: Do men suffer from vWD?
A: Yes, vWD is an inherited genetic condition. It affects males and females in equal numbers, and the defective gene can be inherited from either parent. Men obviously are not affected with menstrual bleeding, but they can bruise easily, get heavy and frequent nose bleeds, and bleed excessively following surgery or dental procedures. These symptoms also affect women with von Willebrand disease.
Q: What can happen if vWD is not diagnosed in someone who has the disorder?
A: In a person with severe von Willebrand disease, untreated bleeding arising from trauma or surgery can be fatal. Nonfatal consequences of vWD include easy bruising, heavy and frequent nose bleeds, and mouth bleeds following dental work and/or toothbrushing. Heavy menstrual bleeding, one of the hallmarks of the disease for women, can lead to anemia and seriously undermine a woman's quality of life. In addition, gastrointestinal bleeding is also seen in about 10% of patients.
Q: Explain the quality of life issues associated with vWD.
A: Women with vWD of childbearing years can have menstrual periods that last for weeks or, in some cases, for months at a time. Continuous bleeding can lead to severe anemia. Prolonged menstrual bleeding can make becoming pregnant impossible and/or can increase the risks of miscarriage. Women who do carry a pregnancy to term are at increased risk of developing potentially fatal postpartum hemorrhaging. Also, painful menstrual periods, a sense of isolation due to not knowing that others have similar problems, and frustration with the medical system are common quality of life concerns.
Q: If so many people suffer from vWD, why doesn’t anyone know about it?
A: Because it is a genetic disease, vWD" runs" in families. When a woman’s mother, aunts, and grandmothers have bleeding problems, she may not realize that this is a legitimate medical concern, and assume that she has to put up with these problems as well. Also, as caretakers, many women have traditionally put their own healthcare issues on the backburner and have concentrated their energies on taking care of their families.
Q: What other bleeding disorders do women have?
A: Women and girls can also be born with other bleeding disorders. These conditions include factor deficiencies such as factor VIII and factor IX deficiency (hemophilia) and other clotting factor deficiencies (for example, factor I, II, X, V, VII, XI, XIII deficiencies). All of these conditions are rare, but they can be treated by a hematologist.
Q: Why is NHF focusing on vWD now?
A: Because of the National Hemophilia Foundation’s 50 years' experience with inherited bleeding disorders, NHF has always been aware and supportive of people with bleeding disorders other than hemophilia. Through the hemophilia treatment centers, NHF’s 43 chapters, and the research of several NHF Judith Graham Pool Postdoctoral Research Fellows, NHF has been actively involved in the recognition of von Willebrand disease and the promotion of its treatments. Another reason why NHF is becoming more proactive on the issue of vWD is simply because new information about the disease is becoming available. These new data illuminate both the incidence and severity of vWD in the United States:
vWD is far more widespread than previously thought, and the quality of life issues are more complex than they were previously understood to be. An education initiative on vWD is the natural evolution of an expanding program that matches the growing body of knowledge of the disease.
Q: How can I learn more about von Willebrand disease?
A: Additional information can be obtained from the information clearinghouse of the National Hemophilia Foundation (1-800-42-HANDI). NHF’s information specialists can answer your questions, provide you with informational packets, mail you NHF’s educational brochures on vWD, and provide the names of hematologists and the location of treatment centers in your region. NHF’s information clearinghouse can also be reached through the Internet (Shumes@hemophilia.org) or via NHF’s website (www.hemophilia.org).
Requests for information can also be faxed to NHF (212-328-3799).
