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: Haemophilia Centre Doctors' Organisation in association of medical practitioners who work within the Haemophilia Centre's in USA, carried in by the during the last few years, have been made to optimize existing therapies for VWD, but also to devise new approaches, such as inducing endogenous expression with interleukin-11, administering exogenous recombinant VWF, or introducing the protein via gene delivery.