Von Willebrand Disease (VWD) is an autosomal inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (VWF) and is the most common bleeding disorder, found in up to 1% of the world’s population.
VWF, along with factor VIII (FVIII), is a key molecule in platelet aggregation and adhesion and is critical to prevent bleeding via blood clotting.
Typical symptoms of VWD include easy bruising, epistaxis, gingival bleeding, surgical bleeding, and heavy menstrual bleeding.
von Willebrand Disease
Disease Background
Characteristics of Types of VWD
| Type | Classification | Description | Bleeding | Incidence3 |
|---|---|---|---|---|
| 1 | Quantitative | Partial deficiency of VWF | Variable from mild to moderate | ~85% |
| 2A | Qualitative | Defects in multimerization | Variable from moderate to severe | 10-15% |
| 2B | Qualitative | Increase in spontaneous platelet binding | Variable from moderate to severe | 10-15% |
| 2M | Qualitative | Defects in ligand binding with intact multimers | Variable from moderate to severe | 10-15% |
| 2N | Qualitative | Defects in FVIII binding | Variable from moderate to severe | 10-15% |
| 3 | Quantitative | Severe deficiency of VWF | Severe | <1% |
VWF, von Willebrand factor
Diagnostic Process
The National Institute of Health recommends that assessments for diagnosis of VWD occur in two main stages:
1. Evaluation of clinical history
- Family history and personal bleeding history (spontaneity and severity, sites of bleeding, duration of bleeding, type of injury associated with bleeding, ease with which bleeding can be stopped)
2. Laboratory evaluations
a platelet-dependent VWF activity
Treatment Options1,3,4,5
| VWD Type | Recommended Treatment |
|---|---|
| 1 | Desmopressin (if unresponsive to desmopressin use VWF/FVIII concentrates) |
| 2 | VWF/FVIII concentrates |
| 3 | VWF/FVIII concentrates |
Treatment Guidelines
ASH ISTH NHF WFH 2021 Guidelines on the Diagnosis and Management of von Willebrand Disease
NHLBI 2008 Guidelines
Canadian Hemophilia Society: Guidelines for the diagnosis of von Willebrand disease (VWD)
1.Nichols WL, Hultin MB, James AH, et al. Von Willebrand Disease. Haemophilia 2008;14(2):171–232.2.Data and statistics on von Willebrand disease. Available from: https://www.cdc.gov/ncbddd/vwd/data.html 3.Sharma R, Flood VH. Advances in the diagnosis and treatment of Von Willebrand Disease. Hematology Am Soc Hematol Educ Program. 2017(1):379–384. 4.Ng C, Motto DG, Di Paola J. Diagnostic Approach to VWD. Blood 2015; 125(13):2029–2037. 5. Federici A. Management of inherited Von Willebrand Disease in 2006.. Semin Thrombosis Hemostasis. 2006; 32:616–620.