IN BRIEF

YOUR GUIDE TO von Willebrand Disease

If you often have large, lumpy ; lead to heavy, hard-to-stop after frequent or difficult-to-stop ; an injury. The bleeding from VWD can bleed a lot after a fairly minor cut; or are lead to damage of your internal organs or a woman who has very heavy or long even be life threatening, but this is rare. menstrual periods, you should ask your In VWD, you either have low levels of doctor about an inherited bleeding a certain protein in your blood or the disorder called von Willebrand disease protein doesn't work the way it should. (VWD). Named for Dr. Erik von The protein is called von Willebrand Willebrand, a Finnish doctor who first factor (VWF). It is made in the walls described the condition in 1926, VWD of your blood vessels and released into affects your blood's ability to clot and can your blood. Normally, when one of your blood vessels • In type 3 VWD, you usually have no is injured, you start to bleed. As soon as and low levels of this happens, small cells in your blood that factor VIII. Type 3 is the most serious are called clump together to plug form of VWD, but very rare. the hole in the blood vessel and stop the Von Willebrand disease cannot be cured, bleeding. Von Willebrand factor acts like but it can be treated. Early diagnosis is glue to help the platelets stick together and important, and with the right treatment form a blood clot. plan, even people with type 3 VWD can be Von Willebrand factor also carries with it helped to live active lives. clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that is inactive or What Causes von Willebrand disease? missing in hemophilia, another clotting disorder. Von Willebrand disease is almost always inherited. Your parents pass the gene for Von Willebrand disease, like hemophilia, is the disease on to you. You can develop an inherited bleeding disorder, but VWD types 1 or 2 VWD when only one of your is more common and usually milder. In parents carries the gene for it. You usually fact, VWD is the most common of all the inherit type 3 VWD only if both of your inherited bleeding disorders. It occurs in parents pass the gene on to you. Your about 1 out of every 100 to 1,000 people. symptoms may be different from your It also affects both males and females, parent’s. while hemophilia mainly affects males. Some people develop a form of the disease There are three major types of von later in life as a result of other medical Willebrand disease. conditions. This is called Acquired von Willebrand Syndrome (AVWS). • In type 1 VWD, you have a low level of the von Willebrand factor, and you may have lower levels of factor VIII than What Are the Signs and Symptoms of normal. This is the mildest and most von Willebrand Disease? common form of VWD. About 3 out of every 4 people with VWD have type 1 The signs and symptoms of VWD depend VWD. on the type and severity of the disease. • In type 2 VWD, the von Willebrand Many people have such mild symptoms factor does not work the way it's that they may not know they have the dis- supposed to. Type 2 VWD is divided order. Some people have the gene for the into subtypes 2A, 2B, 2M, and 2N. disease but don't have any symptoms. Each type is caused by different gene If you have type 1 or type 2 VWD, you may mutations and treated differently. This have the following mild to moderate makes knowing the exact type of VWD symptoms: that you have very important.

2 Your Guide to von Willebrand Disease • Frequent large bruises from minor not be diagnosed until they have heavy bumps or injuries. bleeding after surgery or some other trauma. • Frequent or difficult-to-stop nosebleeds. On the other hand, type 3 VWD can cause • Extended bleeding from the gums after major bleeding problems during infancy a dental procedure. and childhood. As a result, children with • Heavy or extended menstrual bleeding type 3 VWD are usually diagnosed during in women.* their first year of life. • Blood in your stools from bleeding in To find out if you have VWD, your doctor your intestines or stomach. will take a complete medical history and do a physical exam. For the history, he • Blood in your urine from bleeding in or she will likely want to know about your kidneys or bladder. your personal and family history -– • Heavy bleeding after a cut or other in particular: accident. • Any episodes of bleeding from a small • Heavy bleeding after surgery. wound that lasted more than 15 minutes or started up again within the first seven * is the most days following the injury. common symptom in women. If it isn’t treated, it can lead to iron deficiency and • Any episodes of extended, heavy or anemia. (Not all heavy menstrual repeated bleeding after surgery or dental bleeding is due to VWD.) extractions that required medical attention. If you have type 3 VWD, you may have any or all of the symptoms listed above, as well • Any episodes of bruising with little or as the following: no apparent trauma, especially if you could feel a lump under the . • Severe bleeding episodes for no reason. These bleeding episodes can be life • A that occurred for no threatening if not treated right away. apparent reason and lasted more than 10 minutes despite pressure on the nose • Bleeding into soft tissue or joints, or a nosebleed that needed medical causing severe pain and swelling. attention. • Any episode of blood in your stool for How is von Willebrand Disease no apparent reason. Diagnosed? • Any heavy menstrual bleeding in Von Willebrand disease is sometimes women (usually with clots or lasting difficult to diagnose. People with type 1 longer than 7 to 10 days). or type 2 VWD may not have major • Any history of muscle or joint bleeding. bleeding problems; as a result, they may

Your Guide to von Willebrand Disease 3 • Any medicines you've taken that might Your doctor may order these tests more cause bleeding or increase the risk of than once to confirm the diagnosis. He or bleeding – for example, aspirin, other she may also refer you to a hematologist nonsteroidal anti-inflammatory drugs (a doctor who specializes in treating blood (NSAIDs), clopidogrel (Plavix ®), diseases) to confirm the diagnosis and for warfarin, or heparin. follow-up care. • Any history of liver or kidney disease, Early diagnosis is important to make sure blood or bone marrow disease, or high you are treated effectively and can live a or low blood counts. normal, active life. The doctor will also do a physical exami- How is von Willebrand Disease nation to look for: Treated? • Unusual bruising or other signs of Your doctor will decide what treatment recent bleeding. you need, based on the type of VWD you have and how severe it is. Most cases of • Evidence of liver disease or anemia. von Willebrand disease are mild, and No single test exists for diagnosing VWD. you may need treatment only if you have As a result, your doctor will order a surgery, tooth extraction, or an accident. combination of blood tests to diagnose Treatments for von Willebrand disease the disease. These tests may include: include medicines to: • Von Willebrand factor antigen. This test • Increase release of von Willebrand measures the amount of von Willebrand factor and factor VIII into the blood- factor in your blood. stream. • Von Willebrand factor • Replace von Willebrand factor. (ris-toe-SEE-tin) cofactor activity. This test shows how well the von Willebrand • Prevent breakdown of clots. factor works. • Control heavy menstrual bleeding in • Test for factor VIII clotting activity. women. Some people with von Willebrand Specific treatments include: disease have low levels of factor VIII activity, while others have normal levels. • (DDAVP). This is a synthetic hormone that you usually take • Von Willebrand factor multimers. This by injection or nasal spray. It makes test is performed if one or more of the your body release more von Willebrand 3 tests above are abnormal. It shows factor and factor VIII into your blood- the makeup or structure of the von stream. DDAVP works for most Willebrand factor. It helps your doctor patients with type 1 and some with type diagnose what type of VWD you have. 2 VWD. • Platelet function test. This test measures how well your platelets are working.

4 Your Guide to von Willebrand Disease Tips for Living with von Willebrand Disease

It's important that you try to prevent bleeding VWD (for example, type 3 VWD), so that in and stay healthy. You should: case of serious injury or accident the doctors caring for you will know you have ■ Avoid over-the-counter medicines that can VWD. affect blood clotting, including aspirin, Ibuprofen, and other nonsteroidal ■ Exercise regularly and maintain a healthy anti-inflammatory drugs (NSAIDs). weight. Exercise helps keep muscles flexible. It also helps prevent damage to ■ Always check with your doctor before muscles and joints. Always stretch before taking any medicines. exercising. ■ Tell your doctor or dentist that you have Some safe exercises or activities are von Willebrand disease. Your dentist can swimming, biking, and walking. Football, talk to your doctor about whether you hocke y, w restling, and lifting heavy need medicine before dental work to weights are not safe activities if you have reduce bleeding. bleeding problems. Always check with your ■ Consider wearing a medical ID bracelet or doctor before starting any exercise program. necklace if you have a serious form of

• VWF replacement therapy. This • Fibrin glue is medicine that is placed involves getting an infusion of a concen- directly on a wound to stop the trate of von Willebrand factor and bleeding. factor VIII into a vein in your arm. This treatment can be used if you: Frequently Asked Questions ❏ Can’t take DDAVP or need extended treatment. 1. Is there a cure for von Willebrand disease? ❏ Have type 1 VWD that doesn’t respond to DDAVP. No, von Willebrand disease is a lifelong disorder. However, most people have a ❏ Have type 2 or type 3 VWD. mild form that causes little or no • Oral contraceptives, or birth control change in their lives. Even those with pills, can help women who have heavy type 3 von Willebrand disease can live menstrual bleeding. The hormones in normal, active lives once they are the pills can increase the amount of treated. VWF and factor VIII in the blood- 2. Who should know that I have von stream. Willebrand disease? • Antifibrinolytic drugs help prevent the People like your doctor, dentist, breakdown of blood clots. They are employee health nurse, gym trainer, used mostly to stop bleeding after minor and sports coach should be aware of surgery, tooth extraction, or an injury. your condition. If you have a severe They may be used alone or together form of VWD (for example, type 3 with DDAVP and replacement therapy.

Your Guide to von Willebrand Disease 5 VWD), consider wearing a medical ID 5. Do all people who have the gene for bracelet or necklace that states you von Willebrand disease have bleeding have von Willebrand disease. In case of problems? an accident or emergency, this will be No. Some people carry the genes for very helpful to the health care team the disease but do not have symptoms. treating you. They still can pass the disease on to Since your parents, brothers and their children. sisters, and children may also have von 6. How will I know if I have von Willebrand disease, you should Willebrand disease? consider telling them about your diagnosis and suggesting they consider The first step is a thorough history getting tested. and physical examination. If you or anyone in your family has a history of 3. Who should know that my child has bleeding, your doctor can order a von Willebrand disease? number of blood tests to find out Anyone who is responsible for your whether you have the disease. These child should know about his or her tests will check how quickly your blood condition. For example, his or her clots and the levels of clotting factors in teacher, school nurse, daycare provider, your blood. Your doctor can use these coach, or any after-school program test results to diagnose your exact type leader should know, particularly if your of VWD. child has one of the more severe forms of VWD (for example, type 3 VWD). 4. Is von Willebrand disease life threatening? Most people with von Willebrand disease have a mild form of the disease, which usually does not cause bleeding that is life threatening. But any bleeding that can’t be controlled can be life threatening. Some people with severe forms of von Willebrand disease need to seek emergency treatment to stop bleeding before it becomes life threatening.

6 Your Guide to von Willebrand Disease For Women Only

Heavy menstrual bleeding is often the main for another reason, it will do away with symptom of von Willebrand disease for menstrual bleeding altogether and possibly women. Doctors call this menorrhagia. improve your quality of life. However, They define it as: hysterectomy carries its own risk of bleeding complications. ■ bleeding with clots larger than about 1-inch in diameter Pregnancy can be a challenge for women with VWD. Although blood levels of VWF ■ anemia or low blood iron and factor VIII tend to increase during ■ need to change pad or tampon more pregnancy, women with VWD can have than every hour bleeding complications during delivery. They also are likely to have heavy bleeding Of course, heavy menstrual bleeding can for an extended period after delivery. also be a sign of a gynecological disorder, so it's important to have a complete gynecolog- However, there are things you can do to ical exam before you seek testing for VWD. minimize the chances of complications in pregnancy: If you have VWD and heavy menstrual bleeding, there are treatments to help you. ■ Consult a hematologist and an They include: obstetrician who specializes in high-risk pregnancies before you become ■ Combined oral contraceptives. They pregnant. increase VWF and factor VIII in your blood and reduce menstrual blood loss. ■ Consider using a center that specializes They are the most often recommended in high-risk obstetrics and has a birth control method for women with hematologist with expertise in bleeding VWD. disorders on the staff for prenatal care and delivery. ■ A intrauterine device. This is a contraceptive device that ■ Before you have any invasive procedure, contains progestin. such as amniocentesis, ask your doctor whether anything needs to be done to ■ Aminocaproic acid or are prevent serious blood loss. antifibrinolytic drugs. They can reduce bleeding by slowing the breakdown of ■ During your third trimester, you should blood clots. have blood tests to measure VWF and factor VIII to help plan for delivery. ■ Desmopressin (DDAVP). ■ You should also meet with an For some women who no longer anesthesiologist to review your want children, endometrial ablation is choices for anesthesia and to performed. This procedure, which discuss taking medicine to reduce destroys the lining of your , has your bleeding risk. been shown to reduce menstrual blood loss in women with VWD. With these precautions, most women with VWD can have successful If you need a hysterectomy, or pregnancies. surgical removal of the uterus,

7 For More Information

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NIH Publication No. 08-5849 January 2008