Thrombophilia

Question 1

What are the types of causes of thrombophilia?

Answer 1

Inherited vs acquired

Question 2

What are the inherited causes of thrombophilia?

Answer 2

Factor V Leiden
Prothrombin gene deficiency
Less common
- antithrombin III deficiency
- protein C deficiency
- protein S deficiency

Question 3

What are some acquired causes of thrombophilia?

Answer 3

Antiphospholipid syndrome
Drugs - eg COCP

Question 4

What is the most common cause of thrombophilia in the UK?

Answer 4

Factor V Leiden

Question 5

What is factor V Leiden?

Answer 5

Activated protein C resistance
- activated factor V is inactivated 10x more slowly by protein C than normal
Inherited thrombophilia

Question 6

What is protein C deficiency?

Answer 6

Autosomal codominant with increased risk of thrombosis

Question 7

What is the classic feature of protein C deficiency?

Answer 7

Skin necrosis following commencement of warfarin - temporary procoagulant state due to reduced protein C

Question 8

What are the genetics of antithrombin III deficiency?

Answer 8

Autosomal dominant

Question 9

What is the management of antithrombin III deficiency?

Answer 9

Lifelong warfarin
(disorder mediates effects of heparin)