How to diagnosed von Willebrand disease

Definition

Von Willebrand's disease (VWD) is the most frequent hereditary bleeding disease due to abnormality of
the von Willebrand factor.

There are 3 major types of VWD:

- Type 1 is the most common type and caused by partial quantitative deficiency of von Willebrand
factor (vWF). Mild to moderate bleeding
- Type 2 (2A, 2B, 2M, 2N) is due to qualitative dysfunctional of vWF. Mild to moderate bleeding,
but some cases can be worse
- Type 3 is due to absence or near absence of vWF, with reduction of factor VIII and severe
bleeding

Clinical manifestation

- The most common manifestation in VWD are bruising and mucocutaneous bleeding
- Women with VWD usually have a history of heavy menstrual bleeding
- Gastrointestinal bleeding can also be seen in VWD

Laboratory testing that support diagnosis VWD

- Baseline homeostasis assessment

o Blood count may reveal normal CBC and a normal platelet count, except type 2B who
may have thrombocytopenia
o Normal or prolonged aPTT, normal PT
o BT may be abnormal in VWD, but normal BT does not eliminate the possibility of VWD
- VWD screening tests
o VWF antigen  level <30 percent is consistent with VWD, levels 30-50 percent is low
VWF and level >50 persent is normal
o VWF activity  decreased in VWD
o VWF binding to platelets or collagen
o Factor VIII activity  decreased in VWD

Reference

1. Hughes HK, Kahl LK, editor. The hariet lane handbook. 21st Ed. Philadelphia: Elsevier; 2018.

2. Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and
management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report
(USA). Haemophilia 2008; 14:171.