About von Willebrand Disease
The von Willebrand disease is named after Dr. Eric von Willebrand who diagnosed this disease in the 20th century as a pseudo-haemophilia.
It’s only in the early 1970-ies that researchers found the protein and called it the von Willebrand protein. This protein is a very large. It is a multimer. It has two important functions in the clotting process. It ensures the adhesion of collagen-cells on the wall of the blood vessel where the leisure is situated and it ensures the transportation of the FVIII protein to the location of the leisure.
The von Willebrand disease is due to a genetic malformation (mutation) and is hereditary. The prevalence is 1 to 1.000 persons. But the expression of the malformation into a disease is not so frequent. And the bleeds are not necessarily as frequent as in severe haemophilia. All depends on the severity of the mutation. The most common is von Willebrand type 1. The most severe is von Willebrand type 3. In the von Willebrand Type 2 you find different subcategories. Each subcategory is related to a typical genetic mutation.
Likewise as in haemophilila, but very rare, there are people who acquire the von Willebrand disease.
The gene that codes for the von Willebrand protein is not situated on the gender destination chromosome, but on chromosome 12. This means that you find the disease by woman as well as by man. When and father and mother are carriers of the malformed gen, the disease will express itself in a severe way.
You can treat the von Willebrand disease with tranexamine, desmopressine or other coagulation drugs. If someone is affected severely, he/she probably must be treated with factor replacement therapy. Currently there is no recombinant von Willebrand factor on the market, so the protein is derived from the human plasma and often in combination with FVIII concentrate.