Knowledge Check • The Blood Project

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

a

True

VWD affects between 0.1 and 1% of individuals.

b

False

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

Type 3 VWD

Type 1 VWD

Type 2 VWD

Partial quantitative reduction

Qualitative defects

Complete loss

Correct! Sorry, Incorrect.

Match the VWD type with the responsible mutation:

Type 2N

Type 2M

Type 2B

Collagen binding site

GPIb receptor binding site

FVIII binding site

Correct! Sorry, Incorrect.

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

a

It is the most prevalent form of VWD

It accounts for up to 80% of all cases.

b

It is predominantly inherited in an autosomal recessive manner

No, it is predominantly inherited in an autosomal dominant manner.

c

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.

d

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.