Von Willebrand Disease

Chris Anderson

Functional Medicine Clinic, https://fbfm.uk

Von Willebrand disease (vWD) is a genetic bleeding disorder that affects the blood’s ability to clot properly. It is named after Erik Adolf von Willebrand, a Finnish physician who first described the condition in 1926. This disorder is characterized by a deficiency or dysfunction of a protein called von Willebrand factor (VWF), which plays a crucial role in blood clotting.

There are several types and subtypes of von Willebrand disease, but the most common form is type 1. In type 1 vWD, there is a partial deficiency of VWF, and individuals with this form of the condition may experience mild to moderate bleeding symptoms. Type 2 vWD is characterized by a qualitative defect in VWF, meaning the VWF protein itself does not function properly. Type 3 is the most severe form, involving a complete absence of VWF, resulting in significant bleeding.

Common symptoms of von Willebrand disease can include:

  1. Easy bruising

  2. Prolonged or excessive bleeding after injury, surgery, or dental work

  3. Frequent nosebleeds

  4. Heavy or prolonged menstrual bleeding in females

  5. Gastrointestinal bleeding

  6. Blood in urine or stool

  7. Excessive bleeding after childbirth

Von Willebrand disease is usually diagnosed through blood tests that measure the levels and function of VWF and other clotting factors. Treatment may include medications to increase VWF levels and promote clotting, such as desmopressin (DDAVP) or VWF replacement therapy. The specific treatment plan depends on the type and severity of the disease.

People with von Willebrand disease can lead normal lives with proper management and medical care. It’s important for individuals with this condition to work closely with healthcare professionals to develop a treatment plan tailored to their specific needs and to be vigilant in managing bleeding episodes.

Von Willebrand disease (VWD) is a genetic bleeding disorder that impairs the blood’s ability to clot. It is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein that plays a crucial role in blood clotting.

There are three main types of von Willebrand disease:

  1. Type 1: This is the mildest form and involves a partial deficiency of VWF.

  2. Type 2: This type is characterized by dysfunctional VWF. There are subtypes (2A, 2B, 2M, and 2N) depending on the specific defect in the protein.

  3. Type 3: This is the most severe form and involves a near-complete absence of VWF.

Von Willebrand factor is important for the adhesion and aggregation of platelets at the site of blood vessel injury. Without proper functioning VWF, bleeding time is prolonged, and individuals with VWD may experience spontaneous bleeding or excessive bleeding after injury or surgery. Common symptoms include easy bruising, nosebleeds, and, in more severe cases, joint and soft tissue bleeding.

Von Willebrand disease is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to their children. It affects both males and females.

Treatment for von Willebrand disease may involve medications that increase the levels of or replace VWF, and in some cases, individuals may need clotting factor concentrates. It’s important for individuals with VWD to work closely with healthcare providers to manage the condition and prevent excessive bleeding.