Thrombophilia and haemophilia

Question 1

Haemophilia A

Answer 1

Lack of factor 8 = failed intrinsic pathway

Infuse fVIII or desmopressin

Question 2

Haemophilia B

Answer 2

Lack of factor 9

Treatment is recombinant factor IX

Question 3

vWD

Answer 3

• Prolonged bleeding and delay in intrinsic system activation
• Autosomal dominant or autosomal recessive
• Epistaxis, menorrhagia
• Desmopressin or factor VIII treatment
• Autosomal dominant

Question 4

Acquired coagulopathy

Answer 4

Antibodies to factor 8
Can be caused by liver disease or biliary obstruction
Hypocalcaemia, hypothermia or massive blood transfusion can impact

Question 5

Factor V Leiden

Answer 5

• Mutation
• Rare in third world countries
• Activated factor V us co-factor of factor X and normally inactivated by protein X
• FVL mutation removes preferred site for activated protein C proteolysis on factor V

Question 6

PTT

Answer 6

Prothromvin time
Expressed as INR
Long INR = factor 7 deficiency

Question 7

Thrombophilia

Answer 7

f5 mutation = activated protein C resistance = hyper coagulation
Increases factors 8,9,11
vWF reduces factor 8 too

Question 8

Haemophilia sx

Answer 8

• Neonatal bleeding
• neonatal intracranial haemorrhage
• Haematoma, prolonged bleeding from cord or umbilical area
• Joint deformity

Question 9

Type I and ii thrombophilia

Answer 9

I is severe deficiency of inhibitors

ii is less severe elevation of coagulation factors

Question 10

Venous thrombosis

Answer 10

Normally asymptomatic

Often in legs - local congestion, pain and tenderness

Question 11

Congenital thrombophilia

Answer 11

• Factor V Leiden leads to activated protein C resistance = hypercoagulability
• Increased levels of factors 8,9,11
• Protein C deficiency (inactivates Fva and FVIIIa)