haemophillia A

Question 1

pathology

Answer 1

mutation on x linked
deficiency or non-functioning VIII
- on F8 gene

Question 2

males or females?

Answer 2

1 in 5K males
1 in 100k female

Question 3

class of severity

Answer 3

Mild - FVIII >5%
Moderate - FVIII 1-5%
Severe – FVIII<1%

Question 4

Clinical presentation

Answer 4

• Spontaneous bleeds if severe from early life – typically joint and muscle bleeds
• Excessive bleeding after challenges – all types
• Recurrent joint bleeds – haemophilic arthropathy ->disability

Question 5

investigations

Answer 5

Isolated prolonged APTT -> then check FVIII assay (test to assess severity)

Question 6

treatment

Answer 6

• Factor VIII replacement
  -on demand treatment if bleeding/surgery for mild/moderate cases
  -regular prophylaxis if severe (infusions to prevent bleeding)
• Novel agents to bypass FVIII action also available for severe patients

Question 7

how to distinguish clinically from haemophillia B

Answer 7

Clinically indistinguishable from haemophilia B

Question 8

severe cases

Answer 8

Frequent spontaneous bleeding & joint damage

Question 9

Risk factors for aquired haemophilia A/B (5)

Answer 9

• Age >60
• IBD
• Diabetes
• Pregnancy/ postnatal
• Malignancy