Von Willebrand Disease: All You Need to Know

Von Willebrand Disease (VWD) is a complex and often misunderstood bleeding disorder that affects individuals from all walks of life. Characterised by abnormal bleeding due to impaired blood clotting, VWD can be challenging to diagnose and manage. Understanding this condition is not just a matter of medical knowledge but a gateway to improved quality of life for those living with it. In this article, we embark on a journey to demystify Von Willebrand Disease, exploring its types, symptoms, diagnosis and treatment. Our aim is to provide a comprehensive resource for patients and their families, empowering them with the insights and information needed to navigate the complexities of VWD. Let’s start with the basics.

What is Von Willebrand Disease?

VWD is a hereditary bleeding disorder caused by a deficiency or dysfunction of a protein called Von Willebrand Factor (VWF). This protein plays a crucial role in blood clotting by facilitating the adhesion of platelets to the blood vessel walls. When VWF is insufficient or doesn't function correctly, individuals are at a higher risk of bleeding, particularly from mucous membranes and into the skin and soft tissues. VWD is classified into various types, each with distinct characteristics.

Types of Von Willebrand Disease

Von Willebrand Disease (VWD) is classified into several types, each with its unique characteristics based on the severity of von Willebrand factor (VWF) deficiency and the functionality of the VWF present. The three primary types of VWD are:

Type 1 VWD

This is the mildest and most common form of VWD, accounting for about 70-80% of cases. Individuals with Type 1 VWD have a partial quantitative deficiency of VWF, meaning that they produce lower-than-normal levels of the VWF protein, but the protein functions adequately. Symptoms are often mild and may include nosebleeds, easy bruising, and prolonged bleeding from minor cuts or dental procedures.

Type 2 VWD

Type 2 VWD is characterised by a qualitative defect in the VWF protein, meaning that even though there may be a normal or elevated amount of VWF, the protein does not function correctly. Type 2 VWD is further divided into four subtypes (2A, 2B, 2M, and 2N), each with distinct features. Symptoms can range from mild to moderate, with varying patterns of bleeding.

Type 3 VWD

This is the most severe form of VWD and is characterised by a complete quantitative deficiency of VWF. People with Type 3 VWD produce very little to no VWF, resulting in severe and often spontaneous bleeding episodes. Joint bleeding and muscle bleeding are common, and individuals with Type 3 VWD require ongoing treatment and management.

Signs and Symptoms of VWD

Though the signs and symptoms of VWD can vary depending on the severity and type, as well as individual factors, some common ones include:

• Easy bruising: Individuals with VWD often experience easy and unexplained bruising, which can occur with minimal or no apparent trauma.
• Nosebleeds (Epistaxis): Frequent or prolonged nosebleeds, which may be spontaneous or occur following minor injuries.
• Prolonged bleeding from wounds: Even minor cuts, scrapes, or dental procedures can lead to prolonged bleeding.
• Excessive menstrual bleeding (Menorrhagia): Women with VWD may have excessively heavy and prolonged menstrual periods, often with clots.
• Gastrointestinal bleeding: This can manifest as blood in the stool or dark, tarry stools due to bleeding in the digestive tract.
• Joint bleeding: In more severe cases of VWD, joint bleeding can occur, leading to joint pain, swelling, and limited joint mobility.
• Muscle bleeding: Some individuals with VWD may experience muscle bleeding, which can cause pain and swelling in the affected area.
• Excessive bleeding after a surgical or dental procedure: Procedures that involve surgical incisions, extractions, or dental work may result in prolonged bleeding episodes.
• Excessive bleeding after childbirth: Women with VWD may experience excessive bleeding after giving birth - a condition called ‘Postpartum Haemorrhage’.

The severity of these symptoms can vary widely, with some individuals experiencing only mild or occasional symptoms, while others may have more significant and frequent bleeding episodes. 

Diagnosis and Testing for VWD

The diagnosis of Von Willebrand Disease involves a series of medical evaluations and tests, and often requires collaboration with haematologists or specialists in bleeding disorders. The diagnostic process for VWD typically includes the following steps:

Clinical Evaluation

The initial step in diagnosis involves a comprehensive clinical evaluation. The healthcare provider will gather a detailed medical history, including any family history of bleeding disorders, to identify potential risk factors or hereditary patterns.

Physical Examination

A physical examination is conducted to assess for signs of bleeding, such as petechiae (small red or purple spots on the skin), ecchymosis (bruising), and any evidence of joint swelling or muscle bleeds.

Blood Tests

The diagnosis of VWD can include several blood tests, including:

• Von Willebrand Factor (VWF) antigen: This test measures the quantity of VWF in the blood.
• VWF activity (Ristocetin Cofactor Activity): This test assesses the functional activity of VWF.
• Factor VIII activity: As VWF stabilises factor VIII, measuring factor VIII activity can help diagnose VWD.
• Platelet function studies: These tests can evaluate how well platelets adhere to the blood vessel walls, which is influenced by VWF.
• Bleeding time test: A bleeding time test measures how long it takes for bleeding to stop after a minor incision on the skin. Prolonged bleeding time can be indicative of VWD.

Specialised VWD Testing

If initial tests suggest VWD, more specialised tests may be performed to determine the specific type and subtype of VWD (Type 1, 2, or 3, and their subtypes). These tests are instrumental in providing a comprehensive and precise assessment of the condition, facilitating effective management and improving the quality of life for patients.

Genetic Testing

In some cases, genetic testing may be recommended to identify specific mutations or gene variants responsible for VWD. This can be particularly useful in cases of Type 2 VWD or when there is uncertainty regarding the diagnosis.

Additional Diagnostic Measures

Depending on the clinical presentation and laboratory results, additional diagnostic measures, such as platelet aggregation studies or assessment of VWF multimers, may be conducted to confirm and classify VWD.

Treatment and Management of VWD

Though the main objective of all types of treatment for VWD is the same, which is to prevent and control bleeding episodes, improve overall quality of life, and minimise the impact of the condition; the specific treatment approach may vary based on the type and severity of VWD. That said, here is an overview of the components involved in the treatment and management of VWD:

• Desmopressin (DDAVP): For individuals with Type 1 VWD and some subtypes of Type 2 VWD, desmopressin (a synthetic hormone) can be administered. DDAVP stimulates the release of stored von Willebrand factor (VWF) and factor VIII from the lining of blood vessels, temporarily increasing their levels in the bloodstream.
• Replacement therapy: For individuals with severe VWD (Type 2 or Type 3), as well as those who do not respond to DDAVP, replacement therapy is the primary treatment. This involves infusing concentrated VWF and factor VIII products to replace the missing or dysfunctional VWF and factor VIII in the blood.
• Prophylactic treatment: Some individuals with VWD may benefit from regular prophylactic infusions of VWF and factor VIII to prevent bleeding episodes, particularly if they have frequent or severe bleeding.
• Oral antifibrinolytic medications: Antifibrinolytic medications such as tranexamic acid can be used in combination with other treatments to prevent or control bleeding, especially in cases of mucous membrane bleeding, excessive menstrual bleeding, and postsurgical bleeding.
• Avoiding triggering factors: Individuals with VWD are often advised to avoid certain medications (such as aspirin and non-steroidal anti-inflammatory drugs) and activities that can increase the risk of bleeding, such as contact sports.
• Surgical and dental considerations: Before dental procedures or surgery, individuals with VWD should coordinate with their healthcare team to plan for appropriate preventive treatment.
• Genetic counselling: Genetic counselling may be recommended for individuals with VWD to understand the hereditary aspects and the risk of passing the condition to their offspring.

Living with VWD

Living with Von Willebrand Disease (VWD) can be a lifelong journey, and individuals and their families often encounter various challenges. Here are some coping strategies and available support systems for effectively managing the condition:

Coping Strategies for Individuals with VWD

• Education and understanding: Individuals with VWD and their families must thoroughly understand the condition and their specific treatment plans. This knowledge enables them to make informed decisions about daily activities, treatment choices, and preventative measures.  
• Effective communication: Open and honest communication with the doctor is vital. Regular check-ups and clear communication ensure that treatment plans are up-to-date and tailored to the individual's current needs.
• Lifestyle adjustments: Learning to adapt to the condition often involves lifestyle changes, such as avoiding certain activities that pose a high risk of injury or bleeding. Finding alternative ways to stay active and involved in sports and social activities may also be essential.
• Stress management: Developing stress management techniques, such as relaxation exercises, mindfulness, or counselling, can help individuals cope with the emotional and physical aspects of VWD.
• Medication adherence: For those on a prescribed treatment plan, adherence to medication and regular follow-ups is crucial. Staying consistent with prescribed therapies helps manage the condition effectively and reduce the risk of bleeding episodes.

Support Groups and Resources for VWD Patients and Their Families

• Patient support organisations: There are numerous patient advocacy and support organisations dedicated to VWD, which provide educational resources, support, and a sense of community for individuals living with VWD and their families.
• Online forums and communities: Online communities and forums offer platforms where individuals and families can share experiences, ask questions, and connect with others facing similar challenges. These virtual spaces often provide valuable insights and emotional support.
• Educational workshops: Attending educational workshops and conferences on bleeding disorders can help individuals and their families stay informed about the latest advancements in VWD management and connect with healthcare professionals and other patients.

Living with VWD is undoubtedly challenging, but with the right strategies and support systems in place, individuals and their families can effectively manage the condition and lead fulfilling lives. That said, it's crucial to remember that accurate diagnosis, personalised treatment plans, and ongoing support are paramount in managing this bleeding disorder effectively. If you or a loved one has been experiencing symptoms of VWD or seeking expert guidance on your existing VWD management, consult a specialist at Max Hospitals. Our dedicated team of haematologists and bleeding disorder experts can provide the expertise, resources, and personalised care needed to navigate the challenges of VWD and work towards a brighter, healthier future. Book a consultation, today. 

Frequently Asked Questions about VWD

​​Q1: How common is VWD?

VWD is considered one of the most common inherited bleeding disorders, affecting approximately 1 in 100 people.

Q2: Can individuals with VWD lead normal lives?

With proper diagnosis and management, most individuals with VWD can lead normal, active lives. Lifestyle adjustments may be needed to minimise bleeding risks.

Q3: Is VWD curable?

VWD is typically a lifelong condition, and there is no cure. However, it can be effectively managed with appropriate treatment and care.

Q4: Is VWD always inherited?

While in most cases, VWD is inherited, it can also occur sporadically without a family history of the condition due to new genetic mutations.

Q5: Can women with VWD have a safe pregnancy and childbirth?

Yes, with proper medical management and the guidance of a specialist, women with VWD can have safe pregnancies and childbirth.

Q6: Are VWD and haemophilia the same?

No. While VWD and haemophilia are both bleeding disorders, they are caused by different factors. Haemophilia is primarily a factor deficiency disorder, whereas VWD is related to issues with the von Willebrand factor.

Q7: Is VWD contagious?

No, VWD is not contagious. It is an inherited genetic condition, meaning it is passed down through families.

Q8: Can VWD be detected in newborns or infants?

VWD can sometimes be detected in newborns or infants who have symptoms of bleeding, but it may not be evident until later in childhood when bleeding tendencies become more apparent.

Q9: Are there any dietary restrictions for individuals with VWD?

While there are no specific dietary restrictions for VWD, individuals may be advised to consume a well-balanced diet rich in iron and maintain a healthy lifestyle to support overall health.

Q10: Can individuals with VWD participate in sports and physical activities?

Yes, many individuals with VWD can participate in sports and physical activities, but it is essential to consult with a specialist to assess individual risk factors and establish safe practices.