Von Willebrand disease
What is Von Willebrand disease?
Von Willebrand disease is the most common hereditary coagulation abnormality. It was first described in Finland in 1926 by Baron Erik von Willebrand, who noted young girls dying of a haemorrhage at puberty and called the condition "pseudo-haemophilia". The estimated prevalence is around 1% of the general population.
It is also known to affect dogs notably Doberman Pinschers.
The disease is associated with quantitative or qualitative deficiency of a multimeric protein, Von Willebrand factor (VWF). It affects women as often as men. The abnormal gene is not on the X chromosome, but on an autosome (not sex-linked).
It can be inherited as a dominant condition, however in some families it has been shown to be a recessive inheritance.
This abnormality results in platelet adhesion disorders and defective factor VIII protection against proteolysis in the circulation. Clinical and laboratory expression of the disease vary widely, even within the same family.
The primary clinical signs are cutaneous-mucosal bleeding, and more commonly, heavy menstrual cycles in women.
Classification of the disease is based on the type of deficit:
- total absence.