Genetic Blood Disorders

Question 1

What is von Willebrand’s disease + pathology?

Answer 1

Genetic condition: abnormal quantity/quality of vWF.

Diminished platelet aggregation + binding with FVIII.

Question 2

Common variations of vW disease?

Answer 2

Type I: Reduced levels (dominant)
Type II: Abnormal vWF (mostly dominant)
Type III: Severe Deficiency (recessive)

Question 3

Type IIb vW disease?

Answer 3

Subtype of Type II - overactivity of vWF

Important distinction for management.

Question 4

Investigations for vW disease + interpretation of results?

Answer 4

Clotting screen: APTT, FVIII, vWF activity: antigen ratio.
Ratio >0.6 = Type I, <0.6 = Type II.
vWF undetectable + reduced FVIII = Type III

Question 5

Symptoms of vW disease?

Answer 5

Nose Bleeds (epistaxis), diffuse bleed, menorrhagia
Type I + II: Mild/Moderate
Type III: Severe, worse post-op

Question 6

Managing vW disease?

Answer 6

Type I: DDAVP (increases vWF) + Tranexamic acid
Type II: vWF or DDAVP (no DDAVP for IIb)
Type III: vWF

Question 7

What is Haemophilia?

Answer 7

X-linked clotting factor deficiency.

Question 8

Haemophilia A vs B?

Answer 8

A - Factor VIII deficiency

B - Factor IX deficiency

Question 9

Investigations for Haemophilia?

Answer 9

1) Clotting screen - APTT

2) FVIII + IX assay - differentiate A vs B.

Question 10

Prophylactic Management of Haemophilia?

Answer 10

RICE - Joint bleeds, self-administered at home

Rest, Immobilize, Cool + Elevate

Question 11

Medical Management of Haemophilia?

Answer 11

Haem A: Recombinant FVIII
Haem B: Recombinant FIX
Mild Bleeding: Oral Tranexamic Acid, DDAVP.