Knowledge Check

True or false: von Willebrand disease (VWD) is the most prevalent hereditary bleeding disorder.

VWD affects between 0.1 and 1% of individuals.

Match the von Willebrand disease (VWD) type with the abnormality in von Willebrand factor (vWF):

Type 2 VWD
Type 3 VWD
Type 1 VWD
Complete loss
Partial quantitative reduction
Qualitative defects
Correct! Sorry, Incorrect.

Match the VWD type with the responsible mutation:

Type 2M
Type 2N
Type 2B
FVIII binding site
Collagen binding site
GPIb receptor binding site
Correct! Sorry, Incorrect.

Which of the following is/are true regarding Type 1 von Willebrand disease (VWD) (learn more here)?

It is the most prevalent form of VWD
It accounts for up to 80% of all cases.
It is predominantly inherited in an autosomal recessive manner
No, it is predominantly inherited in an autosomal dominant manner.
Pathogenic variants can be found throughout the entire full-length molecule
Correct. To date more than 100 type 1 VWD variants have been described with missense variants accounting for the majority of pathogenic candidates.
The cause of type 1 VWD involves variants that influence the rate of VWF synthesis, secretion from the endothelial cell, and clearance from the plasma
Yes, mutations may affect any one of these functions.