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: The study of the disease over a 15-year period in Argentina, 194 of 1150 children (16.9%) were diagnosed as having type 1 VWD (80%), type 2 VWD (19%), and type 3 VWD (1%). The distribution of the different type 2 VWD subtypes was type 2A VWD, 43%; type 2B VWD, 32%; type 2M VWD, 19%; and type 2N VWD, 6%. 80 patients with type 1 VWD and 12 patients with type 2 VWD were prospectively evaluated to desmopressin (DDAVP) response.
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 at Fundación de la Hemofilia de Salta are using gene therapy to treat Type 3 vWD’s, the gene for von Willebrand factor can be introduced through adenoviral vectors.