Haemophilia

Question 1

What should you ask about if suspecting haemophilia?

Answer 1

1. Menstrual bleeding
2. Epistaxis
3. Gingival bleeding
4. Easily bruised - enquire about size, think larger than orange, longer to heal.
5. FHx
6. Surgical history and any problems

Question 2

How are bleeding disorders characterised?

Answer 2

Vascular defects, platelet defects, and coagulation disorders

Question 3

What is this describing?

Autosomal dominant lack of vWF. Most common haemophilia.

Answer 3

Von Willebrand disease

Question 4

What is this describing and what might you see on their clotting screen?
X-linked lack of factor VIII. Tends to skip generations, early trauma/after surgery. Bleeds into joints with arthropathy and into muscles causing haematomas.

Answer 4

1. Haemophilia A

2. Raised aPTT and low factor VIII

Question 5

What is this describing?

X-linked lack of factor IX.

Answer 5

Haemophilia B

Question 6

What is this describing?
Widespread activation of coagulation from release of procoagulants into circulation with consumption of platelets and clotting factors = increased risk of bleeding.

Answer 6

Disseminated intravascular coagulopathy

Question 7

What are the causes of DIC?

Answer 7

Malignancy, sepsis, trauma, obstetrics.

Question 8

What would be the results of blood tests in DIC and how is it treated?

Answer 8

1. Low platelets, raised PT, aPTT, low fibrinogen, high d-dimer, film = shistocytes
2. Transfuse if Plt <50, cryoprecipitate to replace fibrinogen.