From the Guidelines
Von Willebrand disease is associated with deficiency or dysfunction of von Willebrand factor (VWF), a large multimeric glycoprotein that plays two essential roles in hemostasis: it mediates platelet adhesion to damaged blood vessels and serves as a carrier protein for factor VIII, protecting it from premature degradation in circulation. The condition is typically characterized by reduced levels of VWF (Type 1), dysfunctional VWF (Type 2), or complete absence of VWF (Type 3) 1. According to the 2008 NHLBI/NIH guidelines, the diagnosis of von Willebrand disease is based on clinical and laboratory evaluation, including measurements of VWF antigen, VWF ristocetin cofactor activity, and factor VIII activity 1.
Some key points to consider in the diagnosis and management of von Willebrand disease include:
- The three main types of von Willebrand disease: Type 1 (partial quantitative deficiency), Type 2 (qualitative deficiency) with four subtypes (2A, 2B, 2M, 2N), and Type 3 (virtually complete quantitative deficiency) 1
- The use of desmopressin (DDAVP) to stimulate the release of stored VWF from endothelial cells, or VWF replacement therapy using VWF concentrates, depending on disease severity 1
- The importance of regular clinical follow-up in patients with asymptomatic mild to moderate von Willebrand disease, as well as those with aortic sclerosis or other cardiovascular risk factors 1
- The potential for acquired von Willebrand syndrome in patients with severe aortic stenosis, which can be associated with clinical bleeding and resolves after valve replacement 1
Overall, the management of von Willebrand disease requires a comprehensive approach that takes into account the patient's clinical presentation, laboratory results, and individual needs. The goal of treatment is to prevent or control bleeding episodes, improve quality of life, and reduce the risk of morbidity and mortality.
From the FDA Drug Label
von Willebrand’s Disease (Type I): Desmopressin acetate injection 4 mcg/mL is indicated for patients with mild to moderate classic von Willebrand’s disease (Type I) with factor VIII levels greater than 5% Laboratory tests for assessing patient status include levels of factor VIII coagulant activity, factor VIII ristocetin cofactor activity, and factor VIII von Willebrand factor antigen.
The factor associated with von Willebrand disease is von Willebrand factor (VWF), also related to factor VIII.
- Factor VIII is a clotting factor.
- Von Willebrand factor (VWF) is a protein that plays a key role in blood clotting and is involved in the regulation of factor VIII. 2
From the Research
Factor Associated with von Willebrand Disease
The factor associated with von Willebrand disease is von Willebrand factor (VWF) and factor VIII (FVIII) [ 3, 4, 5, 6, 7 ].
- VWF is a plasma glycoprotein that relies on platelets for primary hemostasis and carries and stabilizes FVIII in the blood [ 4 ].
- FVIII is a co-factor that accelerates the activation of factor X by activated factor IX in the coagulation cascade [ 7 ].
- VWF has a dual role in hemostasis, promoting platelet adhesion to thrombogenic surfaces and platelet-to-platelet cohesion during thrombus formation [ 7 ].
- The VWF/FVIII complex is used in clinical practice to treat von Willebrand disease and hemophilia A [ 7 ].
Types of von Willebrand Disease
There are several types of von Willebrand disease, including:
- Type 1: partial quantitative deficiency of VWF [ 3, 4, 5, 6 ]
- Type 2: qualitative deficiency of VWF [ 3, 4, 5, 6 ]
- Type 3: total quantitative deficiency of VWF [ 3, 4, 5, 6 ]
Treatment of von Willebrand Disease
The treatment of von Willebrand disease includes: