Von Willebrand disease (vWD) is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. It is known to affect humans and dogs. There are four types of hereditary vWD. Other factors including ABO blood groups may also play a part in the severity of the condition.
The vWF gene is located on chromosome twelve (12p13.2). It has 52 exons spanning 178kbp. Types 1 and 2 are inherited as autosomal dominant traits and type 3 is inherited as autosomal recessive. Occasionally type 2 also inherits recessively.
The prevalence of vWD is about 1 in 100 individuals. However the majority of these people do not have symptoms. The prevalence of clinically significant cases is 100 per million. He first described the disease in 1926.
Acquired Von Willebrand Disease
Acquired vWD can occur in patients with autoantibodies. In this case the function of vWF is not inhibited but the vWF-antibody complex is rapidly cleared from the circulation.
A form of vWD occurs in patients with aortic valve stenosis, leading to gastrointestinal bleeding (Heyde's syndrome). This form of acquired vWD may be more prevalent than is presently thought.
Acquired vWD has also been described in the following disorders: Wilms' tumour, hypothyroidism and mesenchymal dysplasias.
Further Reading
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