Von Willebrand Disease
Description
Von Willebrand disease (VWD) is a common inherited bleeding disorder that affects the blood‘s ability to clot properly. It is caused by a deficiency or defect in von Willebrand factor (VWF), a protein essential for blood clotting. This blog will explore the signs and symptoms, causes, diagnosis, management, and strategies for thriving with VWD.
Genes Involved
Several genes are involved in the production and function of von Willebrand factor (VWF). The most common gene associated with VWD is the VWF gene, located on chromosome 12. Mutations in this gene can lead to a deficiency or defect in VWF production, resulting in different types of VWD.
Recognizing the Signs and Symptoms
The severity of VWD symptoms can vary greatly from person to person. Some individuals may experience only mild bleeding, while others may have severe bleeding episodes. Common symptoms include:
- Easy bruising: Even minor bumps or scratches can lead to large, noticeable bruises.
- Prolonged bleeding from cuts and injuries: Bleeding may take longer to stop than usual.
- Nosebleeds: Frequent or prolonged nosebleeds are common.
- Heavy menstrual bleeding: Women with VWD may experience unusually heavy or prolonged menstrual periods.
- Bleeding after dental procedures: Gum bleeding after brushing or dental work is a sign of VWD.
- Gastrointestinal bleeding: Internal bleeding in the stomach or intestines can cause abdominal pain, vomiting blood, or black stools.
- Excessive bleeding after surgery: VWD can increase the risk of excessive bleeding during and after surgeries.
Causes
Von Willebrand disease is caused by an inherited genetic mutation. This means that it is passed down from parents to their children. The specific mutation can affect the quantity and quality of von Willebrand factor (VWF) produced in the body, leading to a range of VWD severity.
Inheritance/recurrence risk
VWD is an autosomal dominant disorder, which means that a person needs only one copy of the mutated gene to develop the condition. If one parent has VWD, there is a 50% chance that each child will inherit the gene and develop the disease. The severity of VWD can vary between family members, even if they inherit the same mutation.
