Haemophilia A & B

Question 1

What is haemophilia A?

Answer 1

Deficient factor VIII

Question 2

What is haemophilia B?

Answer 2

Deficient factor IX

Question 3

What is inheritance of haemophilia?

Answer 3

X linked recessive

Question 4

What is the bleeding severity of haemophilia based on?

Answer 4

Levels of clotting factors left

Question 5

Typical presentation?

Answer 5

” 18 month old boy presents with left ankle swelling and pain. It is very hot to touch and he has limited range of motion with difficulty walking. He has had multiple haemotomas on vaccine sites recently. “

Question 6

Symptoms?

Answer 6

MSK

• Haemarthrosis
• Muscle haematoma

GI

• Inappropriate haematemesis
• Retroperitoneal bleed

Bruising
- Severe haemophilia

NO MENORRHAGIA

Question 7

Investigations?

Answer 7

Factor 8/9 levels

aPTT

PTT

Genetic analysis

Question 8

What is normal levels of factor 8/9?

Answer 8

70 - 100%

Question 9

What is aPTT of haemophilia?

Answer 9

Prolonged

Question 10

INR haemophilia?

Answer 10

Normal

Question 11

What does treatment depend on?

Answer 11

Bleeding severity

Question 12

Treatment for life threatening bleed?

Answer 12

Recombinant factor concentrate

Tranexamic acid

Question 13

What is tranexamic acid?

Answer 13

Antifibrinolytic

Question 14

Joint symptomatic treatment?

Answer 14

Splints
Analgesia
Synovectomy

Question 15

How is dosage of coag factor decided in kids?

Answer 15

Activity level

- more active = more factor

Question 16

Treatment of minor bleed?

Answer 16

Desmopressin (DDAVP)

Question 17

Complications of haemophilia?

Answer 17

Anti-VIII antibody
CNS bleed inc risk
Compartment syndrome
Haemophilic arthropathy