Bleeding disorders

Question 1

What is the genetic inheritance of haemophilia?

Answer 1

X linked recessive

Question 2

What is haemophilia A?

Answer 2

Deficiency of factor VIII (8)

Question 3

What is haemophilia B?

Answer 3

Deficiency factor IX (9)

Question 4

What are the features of haemophilia?

Answer 4

Haemarthrosis
Haematomas

Question 5

What is seen on bloods with haemophilia?

Answer 5

Prolonged APTT
Normal PT

Question 6

What is the management of haemophilia?

Answer 6

Factor replacement

Question 7

What is the complication of treatment in haemophilia A?

Answer 7

10-15% develop antibodies against factor VIII treatment

Question 8

What is the genetic inheritance of von Willebran’d disease?

Answer 8

Autosomal dominant
(type 3 is recessive)

Question 9

What is the typical presentation of von Willebrand’s?

Answer 9

Platelet type bleeding - epistaxis, menorrhagia, bruising

Question 10

What is seen on bloods with von Willebrand’s?

Answer 10

Prolonged bleeding
Sometimes prolonged APTT
May have reduced factor VIII

Question 11

What are the types of von Willebrand’s?

Answer 11

1: reduction in vWF (most common)
2: abnormal vWF
3: absence of vWF

Question 12

What is the treatment for von Willebrand’s?

Answer 12

TXA for mild bleeding
Desmopressin
Factor VIII concentrate

Question 13

How does desmopressin work in von Willebrand’s?

Answer 13

raised levels of vWF by inducing release from endothelial cells