VON Willebrand Disease

What Is von Willebrand Disease?

Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs or even cause death, although this is rare.

In VWD, you either have low levels of a certain protein in your blood, or the protein doesn't work the way it should. The protein is called von Willebrand factor, and it helps the blood clot.

Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.

Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's inactive or missing in people who have hemophilia, another clotting disorder.

VWD is more common and usually milder than hemophilia. In fact, VWD is the most common of all the inherited bleeding disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.

Types of von Willebrand Disease

There are three major types of VWD.

Type 1

In type 1 VWD, you have a low level of von Willebrand factor, and you may have lower than normal levels of factor VIII. This is the mildest and most common form of VWD. About 3 out of 4 people who have VWD have type 1.

Type 2
In type 2 VWD, the von Willebrand factor doesn't work the way it should. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations (changes) cause each type, and each is treated differently. So it's important to know the exact type of VWD that you have.

Type 3
In type 3 VWD, you usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it's very rare.

Overview

Most people who have VWD have type 1, a mild form. This type usually doesn't cause life-threatening bleeding. You may need treatment only if you have surgery, tooth extraction, or trauma. If you need treatment, medicines and medical therapies are used.

Some people who have severe forms of VWD need emergency treatment to stop bleeding before it becomes life threatening.

Early diagnosis is important. With the right treatment plan, even people who have type 3 VWD can live normal, active lives.

What Causes von Willebrand Disease?

Von Willebrand disease (VWD) is almost always inherited. "Inherited" means that parents pass the gene for the disorder on to their children.

You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents' symptoms.

Some people have the genes for the disorder but don't have symptoms. However, they still can pass the genes on to their children.

Some people develop a form of VWD later in life as a result of other medical conditions. This form of VWD is called acquired von Willebrand syndrome.

What Are the Signs and Symptoms of von Willebrand Disease?

The signs and symptoms of von Willebrand disease (VWD) depend on the type and severity of the disorder. Many people have such mild symptoms that they don't know they have the disorder.

If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:

• Frequent, large bruises from minor bumps or injuries
• Frequent or hard-to-stop nosebleeds
• Extended bleeding from the gums after a dental procedure
• Heavy or extended menstrual bleeding in women
• Blood in your stools from bleeding in your intestines or stomach
• Blood in your urine from bleeding in your kidneys or bladder
• Heavy bleeding after a cut or other accident
• Heavy bleeding after surgery

People who have type 3 VWD may have all of the symptoms listed above, as well as severe bleeding episodes for no reason. These bleeding episodes can be fatal if not treated right away. People who have type 3 VWD also may have bleeding into soft tissues or joints, causing severe pain and swelling.

Heavy menstrual bleeding is often the main symptom of VWD in women. Doctors call this menorrhagia (men-o-RA-je-a).

They define it as:

• Bleeding with clots larger than about 1-inch in diameter
• Anemia or low blood iron
• The need to change pads or tampons more than every hour

However, just because a woman has heavy menstrual bleeding doesn't mean she has VWD.

How Is von Willebrand Disease Diagnosed?

Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life.

Sometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. As a result, they may not be diagnosed until they have heavy bleeding after surgery or some other trauma.

On the other hand, type 3 VWD can cause major bleeding problems during infancy and childhood. As a result, children who have type 3 VWD usually are diagnosed during their first year of life.

To find out whether you have VWD, your doctor will review your medical history and the results from a physical exam and tests.

Medical History

Your doctor will likely ask questions about your medical history and your family's medical history. He or she may ask about:

• Any bleeding from a small wound that lasted more than 15 minutes or started up again within the first 7 days following the injury.
• Any extended, heavy, or repeated bleeding that required medical attention after surgery or dental extractions.
• Any bruising with little or no apparent trauma, especially if you could feel a lump under the bruise.
• Any nosebleeds that occurred for no known reason and lasted more than 10 minutes despite pressure on the nose, or any nosebleeds that needed medical attention.
• Any blood in your stools for no known reason.
• Any heavy menstrual bleeding (for women). This bleeding usually involves clots or lasts longer than 7 to 10 days.
• Any history of muscle or joint bleeding.
• Any medicines you've taken that might cause bleeding or increase the risk of bleeding. Examples include aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel, warfarin, or heparin.
• Any history of liver or kidney disease, blood or bone marrow disease, or high or low blood platelet counts.

Physical Exam

Your doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding. He or she also will look for evidence of liver disease or anemia (a low red blood cell count).

Diagnostic Tests

No single test can diagnose VWD. Your doctor may recommend a combination ofblood tests to diagnose the disorder. These tests may include:

• Von Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood.
• Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works.
• Factor VIII clotting activity. Some people who have VWD have low levels of factor VIII activity, while others have normal levels.
• Von Willebrand factor multimers. This test is done if one or more of the first three tests are abnormal. It shows the structure of your von Willebrand factor. The test helps your doctor diagnose what type of VWD you have.
• Platelet function test. This test measures how well your platelets are working.

You may have these tests more than once to confirm a diagnosis. Your doctor also may refer you to a hematologist (a blood disease specialist) to confirm the diagnosis and for followup care.

How Is von Willebrand Disease Treated?

Treatment for von Willebrand disease (VWD) is based on the type of VWD you have and how severe it is. Most cases of VWD are mild, and you may need treatment only if you have surgery, tooth extraction, or an accident.

Medicines are used to:

• Increase the release of von Willebrand factor and factor VIII into the bloodstream
• Replace von Willebrand factor
• Prevent the breakdown of blood clots
• Control heavy menstrual bleeding in women

Specific Treatments

Desmopressin (DDAVP) is a synthetic hormone that you usually take by injection or nasal spray. It makes your body release more von Willebrand factor and factor VIII into your bloodstream. DDAVP works for most people who have type 1 VWD and for some who have type 2 VWD.

Von Willebrand factor replacement therapy is an infusion of a concentrate of von Willebrand factor and factor VIII into a vein in your arm. This treatment may be used if you:

• Can't take DDAVP or need extended treatment
• Have type 1 VWD that doesn't respond to DDAVP
• Have type 2 or type 3 VWD

Antifibrinolytic medicines help prevent the breakdown of blood clots. They're mostly used to stop bleeding after minor surgery, tooth extraction, or an injury. These medicines may be used alone or together with DDAVP and replacement therapy.

Fibrin glue is medicine that's placed directly on a wound to stop bleeding.

Treatments for Women

Treatments for women who have VWD with heavy menstrual bleeding include:

• Combined oral contraceptives (birth control pills). The hormones in these pills can increase the amount of von Willebrand factor and factor VIII in your bloodstream and reduce menstrual blood loss. Birth control pills are the most recommended birth control method for women who have VWD.
• A levonorgestrel intrauterine device. This is a contraceptive device that contains the hormone progestin. The device is placed in the uterus (womb).
• Aminocaproic acid or tranexamic acid. These antifibrinolytic medicines can reduce bleeding by slowing the breakdown of blood clots.
• DDAVP.

For some women who are done having children or don't want children, endometrial ablation is done. This procedure destroys the lining of the uterus. It has been shown to reduce menstrual blood loss in women who have VWD.

If you need a hysterectomy (surgical removal of the uterus) for another reason, this procedure will stop menstrual bleeding and possibly improve your quality of life. However, hysterectomy carries its own risk of bleeding complications.

Living With von Willebrand Disease

If you have von Willebrand disease (VWD), you can take steps to prevent bleeding and stay healthy. You should:

• Avoid over-the-counter medicines that can affect blood clotting, including aspirin, ibuprofen, and other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Always check with your doctor before taking any medicines.
• Tell your doctor, dentist, and pharmacist that you have VWD. Your dentist can talk to your doctor about whether you need medicine before dental work to reduce bleeding. You also may want to tell people like your employee health nurse, gym trainer, and sports coach about your condition.
• Consider wearing a medical ID bracelet or necklace if you have a serious form of VWD (for example, type 3). In case of a serious accident or injury, the health care team treating you will know that you have VWD.
• Exercise regularly and maintain a healthy weight. Exercise helps keep muscles flexible. It also helps prevent damage to muscles and joints. Always stretch before exercising.

Some safe exercises and activities are swimming, biking, and walking. Football, hockey, wrestling, and lifting heavy weights are not safe activities if you have bleeding problems. Always check with your doctor before starting any exercise program.

Your parents, brothers and sisters, and children also may have VWD. Consider telling them about your diagnosis and suggesting that they get tested too.

Pregnancy and von Willebrand Disease

Pregnancy can be a challenge for women who have VWD. Although blood levels of von Willebrand factor and factor VIII tend to increase during pregnancy, women who have VWD can have bleeding complications during delivery. They also are likely to have heavy bleeding for an extended time after delivery.

However, you can take steps to lower the risk of complications during pregnancy. Consult a hematologist and an obstetrician who specialize in high-risk pregnancies before you become pregnant.

A hematologist is a doctor who specializes in treating blood diseases and disorders. An obstetrician is a doctor who treats and provides care for pregnant women.

Consider using a medical center that specializes in high-risk obstetrics and has a hematologist on staff for prenatal care and delivery.

Before you have any invasive procedure, such as amniocentesis (AM-ne-o-sen-TE-sis), discuss with your doctor whether anything needs to be done to prevent serious blood loss.

During your third trimester, you should have blood tests to measure von Willebrand factor and factor VIII to help plan for delivery.

You also should meet with an anesthesiologist to review your choices for anesthesia (AN-es-THE-ze-a) and to discuss taking medicine to reduce your bleeding risk. The term "anesthesia" refers to a loss of feeling and awareness. Some types of anesthesia temporarily put you to sleep, while others only numb certain areas of your body.

With these precautions, most women who have VWD can have successful pregnancies.

Children and von Willebrand Disease

If your child has VWD that's severe enough to pose a major risk of bleeding, anyone who is responsible for him or her should be told about the condition.

For example, the school nurse, teacher, daycare provider, coach, or any leader of afterschool activities should know, especially if your child has one of the more severe forms of VWD. This information will help them handle the situation if your child has an injury.

Links to Other Information About von Willebrand Disease

NHLBI Resources

Blood Diseases and Resources Information

"In Brief: Your Guide to von Willebrand Disease"

Non-NHLBI Resources

Bleeding Disorders (MedlinePlus)

Von Willebrand Disease (MedlinePlus)

Clinical Trials

Current Research (ClinicalTrials.gov)

NHLBI Pediatric Clinical Trials