Von Willebrand disease (vWD) is a bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (vWF). In the vast majority of cases, vWD is an inherited disorder caused by mutations in the vWF gene. vWF is involved in platelet adhesion and prevents degradation of factor VIII. Therefore, vWF deficiency or dysfunction impairs primary hemostasis as well as the intrinsic pathway of secondary hemostasis. vWD is often asymptomatic, but mucocutaneous bleeding, GI bleeding, and menorrhagia may occur. Diagnosis is based on patient history and laboratory studies such as quantitative measurement of vWF and ristocetin cofactor assay. Treatment is indicated for symptomatic patients; prophylaxis is indicated for surgical candidates and involves desmopressin and concentrates containing vWF and factor VIII.
|Variants of von Willebrand disease |
|Inherited von Willebrand disease || |
Type 1 (80–85%)
|Type 2 (15–20%)|| |
|Type 3 (∼ 3%)|
|Acquired von Willebrand disease (aVWD)|| || || |
The severity of symptoms varies between the different types of vWD. Type 1 and avWD usually manifest more mildly; type 3 is the most severe form. 
- Often asymptomatic
- Symptomatic individuals may develop the following symptoms:
- Mucocutaneous bleeding
- Bleeding after surgical procedures or tooth extraction
- GI bleeding (can be caused by angiodysplasia)
- Menorrhagia (affects up to 92% of women with vWD) 
- Postpartum hemorrhage
- Severe cases: large hematomas, hemarthrosis, life-threatening bleeding (e.g., during childbirth)
- Recurrent episodes of bleeding since childhood
- Often positive family history
Treatment is only indicated if symptoms occur or as prophylaxis before surgical procedures. 
Inherited von Willebrand disease
Desmopressin (DDAVP): stimulates vWF release from endothelial cells
- Best initial treatment for mild or moderate symptoms (typically type 1 and, sometimes, type 2)
- Not effective for type 3
- Concentrates containing vWF and factor VIII: indicated for severe bleeding, as prophylaxis for surgical procedures and if DDAVP treatment is ineffective
- Other treatment options: antifibrinolytic drugs (i.e., aminocaproic acid, tranexamic acid), oral contraceptives for menorrhagia
- Desmopressin and vWF/VIII concentrates are often less effective than in inherited vWD.
- Patients may benefit from intravenous immune globulin (IVIG) treatment.
- Treatment of the underlying cause.