Women and vWd
Winter 2010 | Dave McCormick, Pharm D. and Kevin Simas, RPh, CPh
Von Willebrand Disease or vWD is a genetic bleeding disorder that affects the blood's ability to clot properly. Of all bleeding disorders, vWD is by far the most common, occurring in up to 3% of the U.S. population. According to the National Hemophilia Foundation, up to 2.5 million women in the U.S. have a bleeding disorder with many remaining undiagnosed. VWD is found worldwide, in every culture and class, and is found equally in men and women. It is passed along genetically, often affecting many members of the same family. In a person with vWD, a protein called von Willebrand Factor (vWF) is low, missing, or does not function properly. VWF is necessary in the clotting process. When bleeding occurs, blood cells called platelets adhere together to form a clot in an effort to stop the bleeding. The function of vWF, which is attached to the factor VIII protein, is to help the platelets stick together so that the blood clot can be held in place. Without enough vWF, the platelets can’t hold together, and the bleeding continues.
There are three types of vWD:
Type I
The most common and generally the mildest form occurring in about 75% of all vWD patients. In Type I, the body simply does not produce enough of the vWF. A parent that has Type I vWD has a 50% chance of passing it to his or her child.
Type II
Occurring in approximately 15 - 30 % of vWD patients, the vWF itself is defective and is not able to carry out its function properly. Type II has several subtypes within its category: 2A, 2B, 2M, and 2N. The difference in these subtypes is that each is caused by a different mutation in the gene. The specific mutation determines the specific treatment. A parent that has Type II vWD has a 50% chance of passing it to his or her child.
Type III
A patient with Type III vWD produces no vWF and also has low levels of the factor VIII clotting protein. Type III is inherited when both parents pass on the defective gene even if the parents' vWD status is mild or undiagnosed. Type III is the most severe and rarest form of vWD.
The symptoms of vWD depend upon the type and severity of the disease. Most people with Type I have very mild symptoms; so mild in fact, that they are unaware that anything is wrong. However in women, the likelihood of being diagnosed increases due to more obvious symptoms such as heavy menstrual bleeding and bleeding during or after childbirth. A person with vWD may experience some of the following symptoms:
• Frequent bruising from minor bumps or injury, often out of proportion to the injury
• Nosebleeds that seem to occur spontaneously and are difficult to stop
• Persistent bleeding from the gums
• Bleeding following a dental procedure
• Heavy and extended menstrual bleeding also called menorrhagia. In up to 20% of women experiencing menorrhagia, the cause is due a bleeding disorder,
usually vWD.
• Blood in the stools or urine from gastrointestinal bleeding or from the kidneys
• Prolonged bleeding after an injury or surgical procedure
• Prolonged bleeding after childbirth
• Bleeding from a cut that takes longer than 15 minutes to stop, continues to re-bleed and seems to takes longer than average to heal
• Bleeding episodes into joints or muscles that causes pain and swelling
• Bleeding into internal organs
Type III individuals may have all these symptoms as well as spontaneous bleeding, or bleeding for no apparent reason. Additionally, they may experience internal bleeding into the joints and soft tissue, which causes pain and swelling similar to people with hemophilia. Diagnosing vWD Proper diagnosis of vWD is critical to ensuring that an appropriate treatment plan is established. As mentioned, people with mild forms of vWD are often unaware they have the disease and only find out when they suffer a significant bleeding episode as in the case of surgery, trauma, or childbirth. However, due to the severity of the bleeding tendencies, those with Type III are often diagnosed early in life. If vWD is suspected, a physician will discuss the various symptoms and will review the patient's medical history, which will include covering what prescription and over-the-counter medications are currently being taken. A physical exam will be performed to look for any unusual bruising or signs of bleeding. The physician will also look for evidence of liver or kidney disease, will measure platelet counts and check iron levels to see if the patient is anemic. If the physician suspects vWD, blood tests will be ordered to measure the level and type of the von Willebrand antigen, the ristocetin cofactor activity, factor VIII levels, and platelet functions. Commonly, these tests will need to be performed two or even three times to get an accurate diagnosis. Testing for vWD is difficult because hormone levels, blood type, and use of other medicines often affect the results. In addition, vigorous exercise and even the stress level of the patient at the time of the blood draw may skew the results. If you or your physician suspects a bleeding disorder, a recommendation to a hemophilia treatment center or to a hematologist for proper testing should be requested. Often, women fail to be diagnosed because doctors are unfamiliar with vWD, or they believe that only men can have bleeding disorders, or the woman herself does not recognize the symptoms as being abnormal.
Treatment
Treatment is based on the type of vWD as well as the severity level. For the majority of Type I patients that experience heavy menstrual cycles, bleeding can be successfully controlled with treatments that include oral contraceptives or a levonorgestrel intrauterine device (IUD). These hormone-based therapies raise the level of vWD and may significantly lessen the amount and length of bleeding during a woman’s cycle. Tranexamic acid or aminocaproic acid (Amicar) may be prescribed for gastrointestinal bleeding, for mouth and nosebleeds, for specific medical procedures, and for menorrhagia. These acids work to help keep the clot from dissolving or breaking apart. If heavy periods cause anemia, iron supplements may also be recommended. The most common medicine used to treat Type I bleeding is a synthetic hormone called desmopressin (DDAVP or Stimate). Desmopressin is commonly administered via intranasal (nasal spray) or by an injection into a vein and works by helping your body release more vWF and factor VIII into the bloodstream. Patients with Type II vWD will require a different treatment protocol depending on the subtype of their diagnosis. Type III is usually the most serious type of vWD and is treated similarly to moderate or severe Type II. For those with a mild or even moderate level of vWD, desmopressin may work well. However, for those with severe vWD or those that do not respond to desmopressin treatment, clotting factor replacement therapy may be required. Replacement therapies of vWF such as Humate-P® or Alphanate® contain vWF as well as factor VIII.
Although being pregnant usually does not pose a problem for a woman with vWD, the delivery of the baby may be more difficult. Women with vWD have an increased risk of postpartum bleeding, which may result in requiring a blood transfusion. However, it is manageable. By consulting with your hematologist and obstetrician before you get pregnant, steps can be taken to minimize the risk of complications during childbirth. In addition, consider working with an obstetrician that specializes in high-risk pregnancies and a medical center that has a high-risk obstetrics unit for the birth. For those women who do not plan on having more children an endometrial ablation, which is a procedure that destroys the lining of the uterus, may be considered to help stop the blood loss if other treatments fails. Additionally, a hysterectomy may be recommended. In the U.S., however, over 30,000 hysterectomies are performed yearly because of bleeding problems. It is suspected that many of these are due to the women actuallyhaving a bleeding disorder that may have been treatable by means other than a hysterectomy.
Taking Steps to Managing vWD
• Get educated. Learn all you can about your specific condition. A project of the National Hemophilia Foundation, Project Red Flag (www.projectredflag.org) is an organization devoted to women with bleeding disorders and is an excellent source of information and educational materials.
• Avoid prescription and over-the-counter medications that affect blood clotting. Be sure that you do not take medicine that contains aspirin, also referred to as acetylsalicylic acid or ASA.
• Inform your physician, dentists and pharmacist that you have vWD. Together, your health care professionals can guide you and take the necessary precautions in your care.
• Wear a medic alert bracelet or necklace so that your diagnosis is known in case of emergency.
• Utilize a safe exercise program, work out regularly and maintain a healthy weight to help prevent long-term damage to your joints.
• If you have a child with vWD, let people that are responsible for your child, such as teachers, coaches, and babysitters, know that he or she has vWD. Explain
how vWD affects your child and what symptoms may be more common for her or him. For example, if your child commonly has nosebleeds, consider showing the caregivers
the proper method of stopping a nosebleed. If your child experiences frequent bruising, explain so they understand that this is not unusual for your child. Being forearmed with knowledge helps ensure that those responsible for your child will know how to react to a minor bleeding episode and in the event of an emergency.
Although still under-diagnosed, more women are seeking answers for the bleeding problems they live with. Coupled with education, self-advocacy, and the support
of medical professionals, von Willebrand Disease can be successfully treated allowing the many women suffering from the often debilitating and embarrassing symptoms
to lead more energetic and active lifestyles.
Resources:
"ACOG Education Pamphlet AP134 -- Endometrial Ablation." American Congress of Obstetricians and Gynecologists. Web. 21 Nov. 2009.
"Bleeding Disorders." Womenshealth.gov - 1-800-994-9662. Web. 21 Nov. 2009.
"Bleeding Disorders and Women." Welcome to the National Hemophilia Foundation. Web. 21 Nov. 2009.
"Bleeding events and other complications during pre... [J Thromb Haemost. 2007] - PubMed result." National Center for Biotechnology Information. Web. 21 Nov. 2009.
"OBGYN.net - von Willebrand Q and A." OBGYN Women’s Health: Obstetrics, Gynecology, Menopause, Osteoporosis, Endometriosis, Mesothelioma, Hysterectomy:
Health Forums. Web. 21 Nov. 2009.
Project Red Flag - Women’s Bleeding Disorders - von Willebrand Disease (vwd). Web. 21 Nov. 2009.
"Von Willebrand Disease" EmpowHer - Women’s Health Online. Web. 21 Nov. 2009.