Von Willebrand disease (VWD) is caused by problems related to a protein in the blood called von Willebrand factor (VWF). This protein plays a crucial role in helping blood clot properly when you get injured. The causes of VWD can be broadly divided into inherited and acquired forms.
In the inherited form, which is the most common, there are genetic changes or mutations affecting the gene responsible for producing von Willebrand factor. This gene is located on chromosome 12. When this gene has certain mutations, it leads to either a lower amount of VWF being made or production of VWF that does not work correctly. Because VWF helps platelets stick together and also carries another important clotting protein called factor VIII, any deficiency or dysfunction disrupts normal clotting processes. These genetic defects are usually passed down from parents to children in an autosomal pattern, meaning both males and females can be affected equally.
There are different types of inherited VWD depending on whether there is simply less von Willebrand factor present (quantitative defect) or if the factor produced does not function properly (qualitative defect). Some people have mild reductions causing minor bleeding issues while others have more severe deficiencies leading to significant bleeding problems.
Acquired von Willebrand syndrome occurs later in life due to other medical conditions rather than genetics. Certain diseases such as some cancers, autoimmune disorders where the immune system attacks parts of the body mistakenly, heart valve abnormalities that cause mechanical stress on blood components, and even some medications can lead to structural changes or destruction of von Willebrand factor after it has been made normally by the body. In these cases, although the gene itself is normal, external factors cause either reduced levels or impaired function of VWF resulting in similar bleeding tendencies as seen with inherited forms.
At its core, what causes Von Willebrand disease boils down to insufficient quantity or poor quality of von Willebrand factor available for proper blood clot formation. Without enough functional VWF circulating in your bloodstream:
– Platelets cannot stick well at sites where blood vessels are injured.
– Factor VIII becomes unstable and decreases because it relies on binding with VWF.
– The overall process that stops bleeding becomes inefficient leading to prolonged bleeding times from cuts or injuries.
In rare situations related specifically to platelet abnormalities themselves—where platelets do not bind properly even if normal amounts of functional VWF exist—bleeding symptoms similar to Von Willebrand disease may appear due to defective interaction between platelets and this critical protein.
Understanding what causes Von Willebrand disease involves recognizing how tightly linked genetics and environmental factors influence this essential component for hemostasis—the body’s natural way of stopping bleeding—and how disruptions at various points lead back ultimately to faulty availability or action of von Willebrand factor itself.
