Overview
Von Willebrand disease is a lifelong bleeding disorder in which the blood does not clot properly due to low levels of von Willebrand factor or abnormal functioning of the protein. It is usually inherited from one or both parents and can lead to abnormal bleeding, which can vary in severity depending on the type of the disease. Symptoms may include heavy bleeding after a dental procedure, prolonged bleeding during menstruation, or nosebleeds. Although there is no cure for the disease, most people with von Willebrand disease can lead active lives with proper treatment and self-care.
Understanding the disease
Symptoms
The symptoms of von Willebrand disease may include:
- Abnormal bleeding: This is the most common sign of the condition and can vary in severity depending on the type and severity of the disease.
- Anemia: Heavy menstrual bleeding can cause iron deficiency anemia in some individuals.
- Swelling and pain: This can be a result of abnormal bleeding in the joints or soft tissue.
- Joint and muscle pain: People with von Willebrand disease may experience pain and swelling in their joints and muscles.
- Abdominal pain and gastrointestinal bleeding: Some individuals may experience abdominal pain and bleeding in the gastrointestinal tract.
- Weakness, fatigue, or a general feeling of being unwell: These symptoms can be associated with anemia and other complications of von Willebrand disease.
- Rash or skin sores: Some people with the condition may develop skin problems, such as rashes or sores.
- Pain, numbness, and tingling in the hands and feet: These symptoms may occur due to bleeding into the tissues, affecting circulation and sensation. Please consult a healthcare professional for a proper diagnosis and treatment plan if you suspect von Willebrand disease or experience any of these symptoms.
Risk Factors
The main risk factor for von Willebrand disease is having a family history of the condition. Parents pass the gene for the disease to their children, and it can be inherited in an "autosomal dominant" manner, meaning a child has a 50% chance of inheriting the gene from an affected parent. In rare cases, the disease can also develop later in life due to an underlying medical condition, known as acquired von Willebrand syndrome.
Development
Von Willebrand disease is an inherited bleeding disorder caused by mutations in the von Willebrand factor gene. There are three main types of the disease, classified based on the severity of the symptoms. The most common type is the inherited type, which is usually autosomal dominant, meaning you have a 50% chance of inheriting the gene from one affected parent. Rarely, it can skip generations. The other two types are acquired von Willebrand syndrome, which can develop later in life due to an underlying medical condition, and the severest form, autosomal recessive, where both parents must pass the mutated gene to the child.
Assessment and Diagnosis
Diagnosis
To diagnose von Willebrand disease, a healthcare provider will typically start with a detailed medical history and physical exam. They may also recommend the following blood tests:
- Von Willebrand factor antigen: This measures the level of von Willebrand factor in your blood.
- Von Willebrand factor activity: This evaluates how well von Willebrand factor works in your clotting process.
- Factor VIII clotting activity: This checks for abnormally low levels and activity of factor VIII.
- Von Willebrand factor multimers: This helps identify the type of von Willebrand disease you have by evaluating the structure of von Willebrand factor in your blood and how its molecules break down. These tests can sometimes vary in results due to factors such as stress, exercise, infection, pregnancy, and medications. Your doctor may recommend repeating some tests over time to obtain accurate results. If you have von Willebrand disease, your doctor may also suggest testing for family members to determine if the condition runs in your family.
Management and Treatment
Complications
Complications of von Willebrand disease can include:
- Uncontrollable bleeding: Rarely, the condition can cause severe bleeding episodes that can be life-threatening.
- Anemia: Heavy menstrual bleeding in women can lead to iron deficiency anemia.
- Swelling and pain: Abnormal bleeding in joints or soft tissue can cause swelling and pain. Von Willebrand disease is a lifelong bleeding disorder, but with proper treatment and self-care, most people can lead active lives. If you experience excessive bleeding, it's important to contact your doctor for further evaluation and management.
Treatment
There are no specific treatments for von Willebrand disease, as it is an inherited bleeding disorder. However, with proper care and management, most people with the condition can lead active lives. Treatment typically involves managing and controlling bleeding episodes, which may involve:
- Desmopressin (DDAVP): This medication can increase the release of von Willebrand factor into the bloodstream. It is often used to treat mild to moderate bleeding episodes.
- Platelet transfusions: In some cases, platelet transfusions may be recommended to help stop bleeding.
- Factor VIII concentrates: People