Heritable Bleeding Disorders

Question 1

Types of Von Willebrand disease

Answer 1

Type 1: most common
Reduced production, but the normal molecule is still being made
Type 2: Low molecular weight polymer being made instead. More severe than type 1 but much less severe than type 3
Type 3: Severe sudden bleeding, haemorrhaging etc.

Question 2

Low Factor VIII in vWF disease

Answer 2

vWF can carry Factor VIII so with low levels of vWF, that can also be low - variable reduction

Question 3

Inheritance pattern of vWF

Answer 3

Autosomal dominant

Question 4

Blood group O and vWF

Answer 4

Group O has lower levels of vWF

Question 5

Clinical presentation of vWF disease

Answer 5

Mucocutaneous bleeding including menorrhagia

Also postoperative and postpartum bleeding

Question 6

Types of bleeding in severe haemophilia

Answer 6

Spontaneous/post-traumatic
Joint bleeding (haemarthrosis)
Muscle haemorrhage
Soft tissue
Life-threatening bleeding

Question 7

Treatment of haemophilia

Answer 7

Replacement of missing clotting protein - on demand or prophylaxis
DDAVP for mild/moderate haemophilia A
Factor concentrates
Antifibrinolytic agents
Vaccination for Hep A and B incase they need transfusion

Question 8

Types of transfusion transmitted infection

Answer 8

Hep A, B, C (G?)
HIV
Parvovirus
vCJD? - theorised, but never diagnosed

Question 9

Inhibitor development to factor concentrates

Answer 9

More common in Haemophilia A (25%)
Result in poor recovery and varied treatment
Increased risk of complications such as chronic joint damage