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: Based on previous epidemiologic studies it is estimated that in the Norway the referral based prevalence of moderate to severe von Willebrand disease (VWD) is approximately 1 in 10,000 (1650 patients)5. This does not include patients with mild type 1 disease (VWF levels 30-50 U/dL), or individuals with borderline VWF levels with a mild bleeding phenotype, of which the prevalence is higher and may even reach 1:100 individuals.
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: Nordic Haemophilia Council’s has certain guidelines in the diagnosis and management of Von Willebrand Disease. DDAVP stimulates two- to sixfold the immediate release of endogenous FVIII, VWF, and tissue plasminogen activator. Optimal hemostasis is usually achieved with a 0.3 mg/kg intravenous dose.26 Subcutaneous administration (0.3 mg/kg) or intranasal spray27 (300 mg; 150 mg if BW <30 kg) are suitable for home treatment after laboratory-confirmed efficacy.