Von Willebrand disease

Von Willebrand disease (VWD) is the most common inherited bleeding disorder.

Von Willebrand factor helps blood platelets form clumps and stick to the blood vessel wall, which is essential in the normal blood clotting process. Von Willebrand disease is caused by a deficiency of von Willebrand factor.

There are many types of von Willebrand disease. The three major types of VWD are called type 1, type 2, and type 3.

• Type 1: Type 1 VWD is classified as having low levels of von Willebrand factor and low levels of factor VIII. Type 1 is the mildest and most common form of VWD.
• Type 2: Type 2 VWD is classified when the von Willebrand factor does not work well. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Each type is caused by different gene mutations (changes), and each type is treated differently.
• Type 3: Type 3 is the most serious form of VWD. Type 3 VWD is classified as no von Willebrand factor and low levels of factor VIII. Type 3 is very rare.

Von Willebrand disease (VWD) occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females.

Most people who have VWD have type 1, which is the mild form. About 3 out of 4 people who have VWD have type 1. This type usually does not cause life-threatening bleeding. Treatment may only be required in certain situations such as surgery, tooth extraction, or trauma. Treatment may include certain medications and medical therapies.

For those people who have the severe forms of VWD, emergency treatment to stop bleeding, may be required.

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

Symptoms of von Willebrand disease may include:

• Heavy or prolonged menstrual bleeding
• Bleeding of the gums
• Bruising
• Nosebleeds
• Skin rash
• Blood in the stools
• Blood in your urine
• Heavy bleeding after a cut
• Heavy bleeding after a surgery

Some people have the genes for the disorder but don't have symptoms.

Von Willebrand disease (VWD) is almost always passed from parents to children though genes.  

• Type 1 and Type 2 can be inherited if only one of your parents passes the gene on to you.
• Type 3 may can be inherited if both of your parents pass the gene on to you.

Although some people who have the genes VWD, may not exhibit any symptoms. However, they still can pass the genes on to their children.

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

Von Willebrand disease may be hard to diagnose. Your doctor will review your medical history, perform a physical exam, and order specific blood tests.

Medical History

Your doctor will likely ask questions about your medical history and your family's medical history.

Physical Exam

Your doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding.

Your doctor may order the following tests to diagnose VWD:

• Bleeding time
• Blood typing
• Factor VIII clotting activity
• Platelet aggregation test
• Platelet count
• Von Willebrand factor specific tests (Ristocetin cofactor test, Von Willebrand factor antigen, and/or Von Willebrand factor multimers)

Note: Low von Willebrand factor levels and bleeding do not always mean you have von Willebrand disease.

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

• Avoid using aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs). These medications can make this condition worse. Do not take these medicines without first talking to your doctor or nurse.
• Bleeding may occur after surgery or when you have a tooth pulled. Tell all of your doctors and dentists if you have VWD. They can take the necessary actions to reduce bleeding.
• Consider wearing a medical ID bracelet if you have VWD, especially type 3, which is the more serious form. In case of a serious accident or injury, the health care team treating you will know that you have VWD.
• Maintain a healthy weight and remain physically active.
• Let people know around you know you have VWD such as health nurse, gym trainer, and sports coach. If they are aware, they can respond quickly if you have an injury.
• If your child has VWD, let the people around him/her know such as the school nurse, coach, teacher.

For pregnant women with VWD:

Women who have VWD can have bleeding problems during delivery. They also are likely to have heavy bleeding for an extended time after delivery. You can take steps to lower the risk of complications during pregnancy.

Talk with a hematologist and an obstetrician who specializes in high-risk pregnancies before you become pregnant. Together they can ensure you have a safe pregnancy and delivery.

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 may require treatment only in certain situations such as surgery, tooth extraction, or an accident.

• DDAVP (desmopressin). DDAVP is a medicine to raise von Willebrand factor level and reduce the chances for bleeding. Typically, this medication will be given by injection or nasal spray. DDAVP (desmopressin) can be given to those with type 1 VWD and for some people who have type 2 VWD.
• Replacement therapy. Replacement therapy may include Humate-P and Alphanate SD/HT, which are approved in treating VWD. Koate DVI has been used for VWD as an off-label use. This treatment can be given to those with type 2 or type 3 VWD and even those with type 1 VWD which have not respond to desmopressin.
• Antifibrinolytic medications. Antifibrinolytic medications, such as aminocaproic acid or tranexamic acid, also are used to treat VWD. These medicines help prevent the breakdown of blood clots.
• Topical agents. Topical products such as topical bovine thrombin (Thrombin-JMI) Fibrin sealant (Tisseel VH). These topical products can be used as an aid for minor bleeding.

Treatments for Women

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

• Birth control pills. The hormones in these pills can increase the amount of von Willebrand factor and factor VIII in your blood. The hormones also can 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 birth control device that contains the hormone progestin. The device is placed in the uterus (womb).

Treatments for Women

Treatments for women who have von Willebrand disease VWD with heavy menstrual bleeding may include:

• Endometrial ablation is an option for some women who are done having children or don't want children. This procedure destroys the lining of the uterus. It has been shown to reduce menstrual blood loss in women who have VWD.
• Hysterectomy is another option. This procedure is the surgical removal of the uterus and will stop menstrual bleeding. However, a hysterectomy has its own risk of bleeding complications.

Early diagnosis is important. With the proper treatment plan, those who have von Willebrand disease VWD can live normal, active lives.