Von Willebrand’s Disease

Von Willebrand’s disease is a lifelong bleeding condition that affects how blood clots, making it harder for bleeding to stop. While there is no cure, most people with this condition can lead active lives with proper care and treatment.

Table of contents

• What is Von Willebrand’s disease?
• How common is this condition?
• What causes Von Willebrand’s disease?
• Types of Von Willebrand’s disease
• Signs and symptoms
• How is it diagnosed?
• Treatment options
• Living with Von Willebrand’s disease

What is Von Willebrand’s disease?

Von Willebrand’s disease is a blood disorder that makes it hard for blood to clot properly. People with this condition either have low levels of a protein called von Willebrand factor, which helps blood clot, or the protein they have doesn’t work well^[1].

This protein plays two important roles in stopping bleeding. First, it helps small blood cells called platelets stick together at the site of an injury to form a clot. Second, it carries another clotting protein called factor VIII in the blood and protects it from being broken down too early^[3].

When someone has Von Willebrand’s disease, because the von Willebrand factor doesn’t work the way it should, the clot might take longer to form or form incorrectly, and bleeding might take longer to stop^[3].

How common is this condition?

Von Willebrand’s disease is the most common bleeding disorder. It affects about 1% of the U.S. population, which means approximately 1 in every 100 people have the disease^[3]. Globally, it affects an estimated 23 to 110 in 1 million people^[2].

The numbers vary because some people may have bleeding issues but aren’t diagnosed with Von Willebrand’s disease. In some cases, people have had bleeding issues for many years before they have a firm diagnosis^[2]. Many people with the condition don’t know they have it because they have no symptoms or only mild symptoms^[1].

Von Willebrand’s disease occurs among men and women equally. However, women are more likely to notice symptoms that affect them, such as heavy or abnormal bleeding during their menstrual periods and after childbirth^[3].

What causes Von Willebrand’s disease?

Von Willebrand’s disease is an inherited condition, meaning parents may pass the disorder on to their biological children^[2]. Most people with the condition are born with it because the gene that causes it can be passed down from one or both parents^[1].

The disease happens when certain genes mutate, or change. These genetic mutations affect the body’s ability to make normal von Willebrand factor^[2]. The von Willebrand factor gene is highly variable, and this variation leads to a big range in the normal levels of von Willebrand factor and how it works. As a result, there is a wide spectrum of symptoms and disease severity^[4].

You have von Willebrand factor in your plasma (the liquid part of blood), platelets, and walls of your blood vessels^[2].

Types of Von Willebrand’s disease

There are three major types of Von Willebrand’s disease. The type a person has depends on the amount of von Willebrand factor in their blood and how well it works^[3].

Type 1

This is the most common and mildest form of the disease. About 85% of people treated for Von Willebrand’s disease have type 1^[3]. In this type, a person has lower-than-normal levels of von Willebrand factor. They also might have low levels of factor VIII^[3]. This type is usually inherited in an autosomal dominant manner, meaning you only need to inherit the gene from one parent^[4].

Type 2

With this type, although the body makes normal amounts of von Willebrand factor, the factor does not work the way it should^[3]. Type 2 is further broken down into four subtypes: 2A, 2B, 2M, and 2N. Each subtype has a different problem with how the von Willebrand factor works^[3].

In type 2A, the von Willebrand factor is not the right size and doesn’t help the platelets attach together to form a clot. In type 2B, the von Willebrand factor attaches to platelets at the wrong time when there is no injury. In type 2M, the von Willebrand factor does not attach to the platelets as it should. In type 2N, the von Willebrand factor attaches to platelets normally but does not attach properly to factor VIII^[3].

Type 3

This is the most severe form of the disease, in which a person has very little or no von Willebrand factor and low levels of factor VIII. This is also the rarest type. Only 3% of people with Von Willebrand’s disease have type 3^[3]. This type is inherited in an autosomal recessive manner, meaning you need to inherit the gene from both parents^[4].

Signs and symptoms

The most common symptom of Von Willebrand’s disease is bleeding more than expected^[1]. The amount of bleeding varies from one person to another, depending on the type of the condition and how severe it is.

Many people with Von Willebrand’s disease have the condition but don’t have symptoms or have mild symptoms^[2]. Warning signs, such as heavy menstrual bleeding or bleeding for a long time after dental work, might not show up for years^[1].

Common symptoms include:

• Frequent or hard-to-stop nosebleeds that last longer than 10 minutes and happen five or more times a year^[3]
• Bleeding for a long time from an injury or after surgery or dental work^[1]
• Easy bruising or lumpy bruises. People with this condition may have bruises that are raised, meaning they look like they’re swollen, and are larger than a quarter^[2]
• Bleeding from the gums^[5]
• Blood in urine or stool^[1]

Symptoms in women:

Women with Von Willebrand’s disease may experience heavy menstrual bleeding. Signs of heavy menstrual bleeding include^[1]:

• Blood clots greater than 1 inch (2.5 centimeters) across in menstrual blood
• The need to change a menstrual pad or tampon more than once an hour
• The need to use double sanitary protection for menstrual flow
• Bleeding that lasts longer than seven days^[2]

Women may also experience heavy bleeding after childbirth or miscarriage^[2]. In a study of 102 women with Von Willebrand’s disease, 95% reported heavy menstrual bleeding, while 92% reported bleeding after minor injuries^[18].

Additional symptoms:

Some people may develop iron-deficiency anemia, which happens when the body doesn’t have enough iron to make hemoglobin, the substance in red blood cells that helps them carry oxygen^[2]. Symptoms of anemia include tiredness or shortness of breath^[1].

People who have the most serious form of Von Willebrand’s disease may have bleeding into their joints or soft tissues that cause severe pain and swelling^[2].

How is it diagnosed?

Von Willebrand’s disease can be hard to diagnose because the symptoms are often mild^[5].

A doctor may examine you to check symptoms such as bruising. They’ll ask about whether you’ve had bleeding in the past and whether anyone in your family also has bleeding problems^[5].

If they think you could have Von Willebrand’s disease, they’ll refer you to a specialist in blood conditions called a hematologist^[5].

Blood tests

Von Willebrand’s disease is diagnosed using blood tests. You’ll need to have several blood tests over a few days or weeks^[5]. Your healthcare professional may order the following blood tests^[9]:

• Von Willebrand factor antigen: This shows the level of von Willebrand factor in your blood by measuring a certain protein
• Von Willebrand factor activity: Tests can measure how well the von Willebrand factor works in the clotting process
• Factor VIII clotting activity: This shows whether your levels and activity of factor VIII are too low
• Von Willebrand factor multimers: This checks the form of von Willebrand factor in your blood, its proteins, and how it breaks down. This test helps show the type of Von Willebrand’s disease you have

The results of these tests can change in the same person over time due to factors such as aging, stress, exercise, infection, pregnancy, and medicines. So you might need to repeat some tests^[9].

If tests show you have Von Willebrand’s disease, the specialist will tell you which type you have. Types 1 and 2 are the most common and usually cause mild symptoms. Type 3 is rare and causes more severe symptoms^[5].

Family testing

If you’re diagnosed with Von Willebrand’s disease, your immediate family should also be offered tests, as there’s a chance they could also have the condition^[5].

Treatment options

Von Willebrand’s disease cannot be cured. But there are treatments and self-care that can help people with this condition lead active lives^[1]. Your treatment depends on the type of your condition and how bad it is, where the bleeding is and how bad it is, and your need for procedures such as dental work that may cause bleeding^[9].

The aim of treatment is to correct the dual problem of abnormal or reduced von Willebrand factor and the concomitant deficiency of factor VIII^[12].

Desmopressin (DDAVP)

Desmopressin, also known as DDAVP, is a synthetic hormone that stimulates the release of von Willebrand factor from the cells that line blood vessels^[14]. This medicine causes von Willebrand factor that is stored in the body to be released into the bloodstream^[16].

This medication is available as a nasal spray or injection and is often recommended for people with type 1 or certain forms of type 2 Von Willebrand’s disease to control bleeding before surgery, during menstrual periods, or during a prolonged nosebleed^[14].

Because it does not work for everyone, the doctor will first check the effect of DDAVP by giving the patient a dose when he or she is not bleeding. The doctor will then measure the von Willebrand factor level in the blood to see if it went up enough to stop bleeding^[16].

Common side effects of DDAVP include headaches, low blood pressure, and a temporary increase in heart rate^[14]. DDAVP can also cause side effects such as low sodium and possibly seizures, so doctors may not want to use it in elderly people or children under age five^[16].

Von Willebrand factor replacement

Von Willebrand factor concentrates are needed when desmopressin is ineffective, mainly for type 2 and type 3 Von Willebrand’s disease^[12]. These purified concentrates are used for treatment of bleeds and for surgical prevention when DDAVP is ineffective or not recommended^[13].

Your child’s doctor may recommend replacing von Willebrand factor through a vein as an intravenous treatment. This therapy may be used regularly to prevent or control bleeding in children who do not respond to DDAVP or have more severe bleeding episodes, which can occur in those with type 3 Von Willebrand’s disease^[14].

In the United States, brands of factor concentrate that contain von Willebrand factor include Alphanate SD, Humate P, Koate DVI, Wilate, and Vonvendi. Vonvendi is the first recombinant von Willebrand factor, meaning it’s made without using human blood^[16].

Other medications

Antifibrinolytic drugs, such as aminocaproic acid or tranexamic acid, can be used orally or intravenously to treat mild bleeding from mucous membranes^[13]. These medicines help stabilize clots and reduce bleeding risks in areas such as the mouth or nose^[17].

Emergency treatment

In an emergency, doctors might give a person with Von Willebrand’s disease a blood product called cryoprecipitate to stop bleeding. It contains von Willebrand factor along with other factor proteins. However, since cryoprecipitate is not treated to kill viruses, it is not recommended and is used only if other medicines are not available at all^[16].

Living with Von Willebrand’s disease

With appropriate care, people with Von Willebrand’s disease can have a normal lifespan^[8]. It is important to follow your treatment plan, receive routine care, maintain a healthy lifestyle, and learn how to lower your risk of complications^[19].

Things you should do:

• Eat foods containing iron, such as dark-green leafy vegetables, meat, and pulses, to help prevent anemia. Your doctor may also suggest taking iron supplements^[5]
• Brush your teeth at least twice a day and have regular dental check-ups to help avoid dental treatment for tooth decay^[5]
• Keep a first aid kit with you for treating minor injuries^[5]
• Consider carrying medical identification, such as wallet cards, necklaces, or bracelets. These should include your disease, your factor levels, and how you are treated for bleeding^[16]

Things you should avoid:

• Do not take medicines that can cause bleeding, such as ibuprofen and other non-steroidal anti-inflammatory drugs (NSAIDs) or aspirin. Aspirin will make the platelets not work as well^[5][16]
• Do not take any herbal remedies or supplements without checking with a pharmacist or doctor. Some can cause problems if you have Von Willebrand’s disease^[5]
• Do not take part in sports or activities that are likely to cause injuries, particularly if you have more severe symptoms. Avoid high-impact or contact sports, such as football or wrestling, which increase the risk of injury and bleeding^[5][17]
• Taking large amounts of vitamin E can also mess up your platelets. They can’t stick together as well^[16]

Staying active safely

Physical activity is essential for overall health, but individuals with Von Willebrand’s disease should focus on low-impact exercises to minimize injury risks. Examples include swimming, yoga, and cycling. Consulting with a physical therapist can help you design a safe and effective exercise plan^[17].

Getting specialist advice

Speak to your specialist care team for advice if you’re due to have surgery, a procedure, or dental treatment, or if you’re pregnant or trying to get pregnant. You’ll need to be monitored during your pregnancy and the birth^[5].

If you need any medical or dental treatment, it’s important to also tell the person treating you that you have Von Willebrand’s disease^[5].

A hematologist experienced in the management of bleeding disorders should be consulted before all surgical or dental procedures^[13].

Recognizing early signs of bleeding

Being vigilant about the early signs of bleeding can help prevent complications. Symptoms to watch for include swelling, stiffness, or warmth in joints; unexplained bruises or prolonged nosebleeds; heavy menstrual bleeding lasting more than seven days; and bowel movements that are black or tar-like. Promptly addressing these symptoms with appropriate treatment can reduce their impact on your daily life^[17].