von willebrand disease

Question 1

pathology

Answer 1

Mutation on chromosome 12

Question 2

prevenalnce

Answer 2

1 in 6k

Question 3

inheritance

Answer 3

Different subtypes have different patterns
-typically autosomal dominant (type 1)

Question 4

types

Answer 4

Type 1 – quantitative partial deficiency – COMMONEST BLEEDING DISORDER
Type 2 – functional abnormality
Type 3 – complete deficiency - RARE

Question 5

Clinical presentation

Answer 5

• Excessive mucosal bleeding – nosebleeds, menorrhagia, bleeding from wounds
• Excessive bleeding after challenges – all types
• Joint/muscle bleeds – type 3 only

Question 6

Investigations

Answer 6

Normal Coag screen (prolonged APTT in some subtypes if FVIII low)
- Check vWF Antigen
- Activity assay
- FVIII level (as this is low with low VW)

Question 7

treatment

Answer 7

DDAVP (desmopressin) for type1:
– increases release of vWF from endothelial cells

vWF +- FVIII replacement:
-on demand if bleeding/surgery for type 1/2
-regular prophylaxis if type 3

• Transexemic acid (antifibrinolytic)

Question 8

Classical presentation

Answer 8

• Any age – may be child/adolescent or even adult
• Genders affected equally in family tree
• May present for first time when menstruating or after procedure
• If type 1 vWD – 50% chance of passing on to offspring