What Is Von Willebrand Disease?
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Von Willebrand disease (VWD) is the most common inherited bleeding disorder. The condition gets its name after Erik von Willebrand—a doctor who identified the disease in the 1920s. Your blood contains many proteins that help it clot properly and prevent excess blood loss. One of these proteins is called the “von Willebrand factor.” This protein helps bind and clump with blood platelets, which are cell fragments in the blood that also help with clotting.
When von Willebrand factor is present in your blood at low levels or if it's not working properly, you can experience heavy and frequent bleeding, like nosebleeds or abnormal menstrual bleeding. However, there are effective treatments available to manage the condition—and people who receive treatment can have healthy and active lives.
Types of VWD
There are four types of VWD and knowing what type you have is important. That's because each type has its own prognosis (outlook) and treatment plan. The types of VWD include:
Type 1: About 70% of people with von Willebrand disease have what is called “type 1” disease. This is also the mildest form of the condition. In type 1 disease, you have lower than normal levels of von Willebrand factor, either because your body doesn’t make enough or because it’s getting rid of the protein too quickly.
Type 2: Type 2 disease accounts for about 25% of people with VWD. People with type 2 disease experience bleeding symptoms that are more severe than type 1 disease symptoms.
Type 3: Less than 5% of people have type 3 disease, which is the most severe form of VWD. In people with type 3, levels of von Willebrand factor are extremely low.
Acquired von Willebrand disease: With acquired (meaning, not inherited) VWD, you get the disease later on in life. Sometimes symptoms can develop due to certain underlying health conditions. People with this type experience symptoms that range from mild to moderately severe.
Symptoms
The symptoms of von Willebrand disease occur because of excess bleeding. You might experience one or more of the following:
Frequent nosebleeds that occur without injury, about five or more times a year
Bleeding from your gums
Bruising easily, even after minor injuries
Menstrual bleeding that can last a week or longer and occur with large blood clots
Heavier blood loss during childbirth
Excess bleeding after surgery or dental work
Internal bleeding in the digestive tract, which may cause dark or bloody stools (poops)
Bleeding in the bladder or kidneys, which can cause your urine to look pink or red in color
Causes
People with type 1, 2, or 3 von Willebrand disease have the condition from birth because they inherit the genes of the disease from their parents. These genes can affect how your von Willebrand factor functions. If your von Willebrand factor works incorrectly or is present in low amounts, you can experience symptoms. Generally, it only takes one gene from one side of your family to give you the disease. However, for type 2 or type 3 disease, you need to inherit the genes from both your parents.
But in some cases, you can also develop acquired von Willebrand disease, which develops later in life. VWD can sometimes be a complication with other medical conditions that affect your von Willebrand factor. Some health conditions that can increase your risk of acquired VWD include:
Blood cancers like multiple myeloma
Heart conditions like aortic stenosis (narrowing of a blood vessel in your heart)
Diagnosis
If you're experiencing symptoms of VWD, it's important to see a healthcare provider for proper testing. At your appointment, your provider will ask you about your personal and family medical history. If you have someone in your family who lives with VWD, it's important to tell your provider that. But, if you're unsure about your family's medical history, your provider will run additional tests to rule out other bleeding disorders, such as hemophilia.
Your healthcare provider will order a variety of specialized blood tests to diagnose VWD. They may use the following exams:
Complete blood count: Measures several features of your blood, such as your red blood cell and white blood cell count
Von Willebrand antigen testing: Checks the amount of von Willebrand factor that is present in your blood
Von Willebrand platelet binding testing: Tests how much Willebrand factor is affecting your platelet binding
Von Willebrand factor multimers: Provides information about the structure of your von Willebrand factor
Genetic tests: Identifies specific genes that can cause VWD
Testing for VWD can be tricky, so your healthcare provider will often work with a hematologist (or, a doctor who specializes in blood diseases) before making an official diagnosis.
Treatment
Your exact treatment plan will depend on the type of von Willebrand disease you have and the severity of your condition. Some people with very mild disease may not need any treatment. But, people with more severe and frequent symptoms may need treatment to help reduce excessive bleeding.
Desmopressin
DDAVP (desmopressin), a synthetic form of the hormone vasopressin—which is naturally found in your body—is often the initial treatment. You can either inject this hormone into your veins or use it in the form of a nasal spray. This treatment helps your body release more von Willebrand factor into the blood. Not everyone responds to this hormone though. DDAVP is mostly used for type 1 von Willebrand disease, but it can sometimes help people with type 2 as well.
Replacement Clotting Proteins
Replacement clotting proteins is a treatment option that uses proteins that are made in a lab. These proteins are mostly for people with more severe symptoms or those who haven’t responded well to DDAVP. For example, Vonvendi is a drug that helps replace von Willebrand protein via an injection into your vein.
Other Drug Approaches
A class of drugs called antifibrinolytics are also sometimes helpful in treating VWD. These medications are oral pills that help prevent excess blood loss. Some of the most common drugs your healthcare provider may prescribe are Lysteda (tranexamic acid) and Amicar (aminocaproic acid). Fortunately, these medications are also low-cost and may be covered by your insurance company.
If you experience menstrual periods, your healthcare provider may also recommend birth control pills or intrauterine devices (IUDs) to help reduce too much bleeding during your period.
Prevention
Because type 1, 2, and 3 VWD are inherited conditions, there isn't much you can do to prevent the disease since it's present from birth. However, you can reduce excess bleeding and manage your condition better by following your treatment plan thoroughly.
Related Conditions
Some people with von Willebrand disease develop anemia, which is a condition that causes low levels of healthy red blood cells and leads to symptoms like fatigue and shortness of breath. For example, this might happen if you have especially heavy menstrual bleeding from von Willebrand’s disease. While treating underlying von Willebrand disease is helpful, you might also need treatments for anemia, such as iron pills.
Living With Von Willebrand Disease
Most people with von Willebrand disease can lead normal, active lives. If your condition isn’t severe, you may not experience any significant effects and will be able to manage symptoms effectively with medications.
It's still important to talk to your healthcare provider about your condition even if you have a mild form of VWD. If you're not taking medication as a part of your treatment plan, you might need to temporarily take some medicine in advance of a planned surgery or dental procedure to reduce your risk of excess blood loss.
People with von Willebrand disease can have healthy pregnancies, but they are at higher risk of complications. It's a good idea to talk to a specialist throughout your pregnancy to carefully monitor your condition and minimize complications for you and your baby.
Frequently Asked Questions
What is the life expectancy for von Willebrand disease?
Von Willebrand disease usually does not affect a person’s lifespan. However, if you experienced a serious trauma involving lots of blood loss, you might be more likely to die than someone without the condition, especially if you have type 2 or type 3 disease.
Is von Willebrand disease an autoimmune disease?
Von Willebrand is an inherited genetic condition and not an autoimmune disease. However, von Willebrand disease can sometimes be a complication of some autoimmune conditions, such as lupus or autoimmune thyroid disorders.
Does von Willebrand disease get worse with age?
No. Some evidence actually suggests that levels of von Willebrand protein increase a little with aging, which might slightly reduce bleeding risks in older people with type 1 disease. However, this research isn’t completely clear yet as more studies are needed.
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