Von Willebrand disease (vWD) is an inherited trait where an individual’s bleeds excessively. It is very rare that the vWD is acquired later in life due to autoantibodies. The impairment of protein called von Willebrand factor which is an important component in blood–clotting process. The vWF gene is located on chromosome 12. Types 1 and 2 are inherited as autosomal dominant traits and type 3 is inherited as autosomal recessive. Occasionally type 2 also inherits recessively.
Disease statistics: There was an average of 16 years between the onset of their bleeding symptoms and diagnosis of a bleeding disorder. Women reported an average of 6 bleeding symptoms before a diagnosis of VWD was made. Menorrhagia was the most commonly reported symptom. To obtain the diagnosis of VWD, tests were carried out on average twice (range 1–20 times). 38% of women reported that they were first diagnosed by a Hemophilia Treatment Center (HTC) doctor.
Treatment: The two main treatment possibilities for patients with von Willebrand disease (vWD) are desmopressin (DDAVP) and von Willebrand factor/factor VIII (vWF/FVIII) concentrates. DDAVP is a synthetic analogue of the antidiuretic hormone vasopressin; it has enhanced antidiuretic activity and no pressor activity related to vasopressin. Purified plasma-derived concentrates of vWF/FVIII are used for treatment of bleeds and for surgical prophylaxis when DDAVP is ineffective or contraindicated.
Research: Researcher are using gene therapy to treat Type 3 vWD’s, the gene for von Willebrand factor can be introduced through adenoviral vectors. The Swiss Hemophilia Network collects data on the prophylactic and therapeutic use of factor concentrates in patients with hemophilia and other severe bleeding disorders in Switzerland.