Von Willebrand's Disease

Question 1

Define Von Willebrand’s Disease

Answer 1

Abnormalities in function or expression of von Willebrand’s factor (vWF)

Question 2

Aetiology of Von Willebrand’s Disease

Answer 2

Mutation in the von Willebrand factor (vWF) gene (not seen in 30% of type 1 cases): type 1,2 or 3

Acquired vWF syndrome 
Hyperproliferative disorders: 
 - Monoclonal gammopathy of undetermined significance
 - Multiple myeloma
 - Waldenstrom's macroglobulinaemia 
Aortic stenosis 
Myeloproliferative disorders
Hypothyroidism

Question 3

Risk factors for Von Willebrand’s Disease

Answer 3

Positive family history
Consanguineous relationships
Lymphoproliferative disorders | aortic stenosis | myeloproliferative disorders | hypothyroidism

Question 4

Symptoms of Von Willebrand’s Disease

Answer 4

Bleeding from minor wounds
Post-operative bleeding
Easy and excessive bruising
Menorrhagia (Soaking pads within 1 hours, Anaemia, Reduced ferritin)
Epistaxis (prolonged >30 mins or requires medical attention)
GI bleeding: Melaena, haematemesis

Family history of bleeding

Question 5

Signs of Von Willebrand’s Disease

Answer 5

Haemarthrosis
CNS bleeding
Haematuria

Question 6

Investigations for Von Willebrand’s Disease

Answer 6

Clotting studies: NORMAL PT, RAISED APTT, REDUCED FVIII, REDUCED vWF

FBC: may be normal or platelets reduced in type 2B
vWF antigen: diagnostic if <0.3
vWF function assay: diagnostic