Von Willebrand disease (VWD) is a hereditary bleeding disorder that affects the blood's ability to clot properly. Named after Finnish physician Erik von Willebrand, who identified the condition in the 1920s, VWD is the most prevalent inherited bleeding disorder worldwide. The condition arises due to problems with a specific protein in the blood called von Willebrand factor (VWF), which plays a critical role in blood clotting.

VWF acts by helping blood platelets adhere to the walls of injured blood vessels, forming a plug to stop bleeding. When there’s a deficiency or defect in this protein, the body struggles to form stable blood clots, leading to frequent or prolonged bleeding episodes. VWD can range from mild to severe and affect people of all ages and genders.

Types of Von Willebrand Disease

Understanding the specific type of VWD is essential for accurate diagnosis and treatment planning. The disease is categorized into three inherited types and one acquired form.

Type 1

This is the most common and mildest form, accounting for about 70% of all cases. People with type 1 VWD have lower-than-normal levels of von Willebrand factor. While the protein works correctly, its insufficient quantity can lead to mild bleeding issues. Symptoms may not always be noticeable, and many people may go undiagnosed until they face surgery, trauma, or childbirth.

Type 2

Roughly 25% of VWD cases are type 2. In this form, there’s a qualitative defect in the von Willebrand factor—it is produced in normal or near-normal amounts, but it doesn’t function properly. Type 2 is further divided into several subtypes (2A, 2B, 2M, and 2N), depending on the specific nature of the abnormality. This type tends to result in more significant bleeding symptoms than type 1.

Type 3

Type 3 is the rarest and most severe form, affecting fewer than 5% of people with VWD. Individuals with type 3 usually have extremely low or undetectable levels of von Willebrand factor and often also have low levels of factor VIII, another important clotting protein. Symptoms include spontaneous bleeding episodes, joint bleeds, and severe menstrual or post-surgical bleeding.

Acquired Von Willebrand Disease

Unlike the inherited forms, acquired VWD develops later in life, usually as a result of another medical condition. People may develop this form due to autoimmune diseases, heart valve disorders, or certain cancers. Symptoms mirror those of inherited VWD but require a different approach to diagnosis and treatment.

Common Symptoms of VWD

The hallmark symptom of VWD is abnormal bleeding. Depending on the type and severity, symptoms may range from barely noticeable to life-threatening.

Frequent symptoms include:

  • Chronic nosebleeds, occurring without injury or trauma

  • Easy bruising, often without explanation

  • Gum bleeding, especially during brushing or flossing

  • Heavy or prolonged menstrual periods, sometimes with large clots

  • Excessive bleeding after surgery, dental procedures, or injury

  • Prolonged bleeding from minor cuts

  • Blood in stool or urine, indicating internal bleeding

  • Fatigue and pallor, often due to blood loss-related anemia

Children may show early signs such as frequent bruises or nosebleeds, while women may notice heavy menstrual bleeding (menorrhagia) as a primary symptom.

Causes and Risk Factors

The primary cause of VWD lies in genetic inheritance. For types 1 and 2, a mutation in the gene responsible for producing von Willebrand factor is passed from parent to child. This inheritance can be dominant, meaning only one affected gene from one parent can cause the disorder.

Type 3, however, typically requires two copies of the faulty gene—one from each parent—making it a recessive condition and more severe in presentation.

Acquired VWD can be triggered by underlying health issues, including:

  • Autoimmune disorders like lupus

  • Certain types of cancers, such as multiple myeloma

  • Thyroid dysfunction (e.g., hypothyroidism)

  • Cardiovascular conditions, especially aortic stenosis

  • Use of specific medications, including some chemotherapy agents

While anyone can develop acquired VWD, it is more frequently diagnosed in older adults with coexisting conditions.

How Von Willebrand Disease Is Diagnosed

Diagnosing VWD can be challenging due to the wide variability in symptoms and overlap with other bleeding disorders. A thorough medical evaluation is necessary and typically begins with a detailed family and personal bleeding history.

Diagnostic testing may include:

  • Complete blood count (CBC): Evaluates blood cell levels and overall health

  • Prothrombin time (PT) and activated partial thromboplastin time (aPTT): Measures clotting function

  • Von Willebrand factor antigen test: Assesses the amount of VWF in your blood

  • Ristocetin cofactor activity: Evaluates how well VWF works with platelets

  • Factor VIII level: Since VWF protects this clotting protein, its level can indicate disease severity

  • Multimer analysis: Determines the size and structure of VWF molecules

  • Genetic testing: Helps confirm inherited forms and distinguish between types

Given the complexity, diagnosis is often made in collaboration with a hematologist—particularly in cases of unclear bleeding patterns or conflicting lab results.

Available Treatments

Treatment for VWD depends on the type, severity, and the nature of the bleeding episode. Some individuals with mild type 1 may not require any ongoing treatment unless they undergo surgery or face trauma.

Desmopressin (DDAVP)

Desmopressin is often the first-line treatment for type 1 and certain type 2 cases. It works by stimulating the release of stored von Willebrand factor from the lining of blood vessels. It can be administered as an injection or nasal spray.

However, it may not be effective for everyone and can sometimes lose its effectiveness over repeated use. Pre-treatment testing is typically done to confirm response.

Replacement Therapy

For people who don't respond to desmopressin or have type 3 disease, infusion therapy using VWF concentrates is used. These are lab-manufactured clotting factor products, like:

  • Vonvendi: A recombinant VWF product used via IV

  • Humate-P or Wilate: Plasma-derived factor products with both VWF and factor VIII

These therapies are particularly useful during surgeries, after injuries, or for controlling spontaneous bleeding episodes.

Antifibrinolytic Agents

These oral medications help slow down the breakdown of blood clots and are useful in managing bleeding from mucosal surfaces such as the mouth, nose, or uterus.

Common examples include:

  • Tranexamic acid (Lysteda)

  • Aminocaproic acid (Amicar)

They are especially beneficial for people with heavy menstrual bleeding or dental procedures.

Hormonal Therapy

Women with heavy periods due to VWD may benefit from hormonal birth control methods, such as:

  • Combination oral contraceptives

  • Hormonal IUDs (like Mirena)

  • Depo-Provera injections

These treatments help reduce menstrual blood loss and improve iron levels.

Preventing Excessive Bleeding

Inherited forms of VWD cannot be prevented. However, people with known VWD can manage the condition and reduce complications by:

  • Informing healthcare providers before surgeries or dental work

  • Wearing a medical alert bracelet

  • Avoiding medications like aspirin or NSAIDs that can worsen bleeding

  • Following prescribed treatments and maintaining regular hematologist check-ups

Managing lifestyle habits—like using a soft toothbrush and taking care during physical activities—can also reduce risk.

Potential Complications

Uncontrolled bleeding can lead to serious complications, especially if internal. One of the most common is:

  • Iron-deficiency anemia, caused by chronic blood loss

  • Joint damage, from repeated joint bleeds (more common in severe cases)

  • Complications during pregnancy and delivery

  • Emotional stress or anxiety related to bleeding unpredictability

With proper treatment and monitoring, most of these complications are preventable.

Living With Von Willebrand Disease

Living with VWD involves understanding your specific type and how to prevent or respond to bleeding. With the right care plan, most people lead completely normal, healthy lives.

Key tips include:

  • Keep a record of bleeding episodes

  • Monitor iron levels if prone to heavy bleeding

  • Attend regular hematology appointments

  • Prepare in advance for any surgical or dental procedures

  • Discuss pregnancy plans with a specialist

Children, teens, and adults with VWD should also be educated about their condition so they can confidently advocate for their health needs.

Pregnancy and Von Willebrand Disease

Pregnancy poses additional challenges for people with VWD, particularly during labor and delivery. Hormonal changes can improve clotting temporarily, but bleeding risk increases postpartum.

It’s crucial to work closely with an obstetrician and hematologist during pregnancy to monitor clotting factor levels and plan for delivery. With adequate care, most people with VWD have safe pregnancies and healthy babies.

Conclusion

Von Willebrand disease, though common, often goes undiagnosed due to its variable symptoms. Whether inherited or acquired, early recognition and tailored treatment are key to preventing complications. With medical advances, effective therapies exist for all forms of VWD, allowing people to lead full, active lives.

If you or a loved one experiences frequent unexplained bleeding, it's worth consulting a healthcare provider to rule out VWD or other clotting disorders.