Which of the following is true regarding Von Willebrand disease?
Ref. Robbins Pathology. 9th edition. Page. 667
 
Von Willebrand’s factor is a glycoprotein made in epithelial cells and megakaryocytes which:

Acts as a bridging molecule between platelets and the sub-endothelium
Helps platelets bind to each other
Is a carrier of factor VIII, helping to prevent its breakdown in the circulation 

 
Types of Von Willebrand’s disease:

Type 1

Decreased quantity of VWF 
Mild to moderate bleeding


Type 2 (several subtypes exist) 
	
Qualitative defect - abnormal types of VWF 


Type 3 

Trace of VWF
Autosomal recessive 
Severe bleeding disorder



Presentation includes

Prolonged bleeding after injury 
Easy bruising
Prolonged epistaxis 
Menorrhagia 
Oral bleeding (eg after tooth extraction) 

Investigation 

VWF antigen level

At least 2 occasions 
Will be low or normal in Von Willebrand’s disease 
Note it is elevated by exercise and hyperthyroidism
It is decreased by hypothyroidism 


Von Willebrand factor ristocetin cofactor activity
PT, platelet count and fibrinogen levels are usually normal
aPPT usually prolonged

Treatment 

Desmopressin (DDAVP) 

	
Increases factor VIII and VWF 
Useful in type 1, variably useful in type 2, not useful in type 3


Tranexamic acid 

An antifibrinolytic agent 
Useful in management of epistaxis and menorrhagia 
Avoid in patients with history of thromboembolic disease or current upper urinary tract bleeding


VWF/factor VIII concentrate
Type 1 & 3 are associated with quantitative defects in vWF
Normal platelet count
Desmopressin stimulates release of VWF
All of the above.