Thrombophilia

Question 1

Definition

Answer 1

Abnormal tendency to develop blood clots

Question 2

It is always hereditary. True or false?

Answer 2

False

- can be hereditary or acquired

Question 3

What are the 3 mechanisms which this can come about?

Answer 3

Increased coagulation activity

Decreased fibrinolytic activity

Decreased anticoagulant activity

Question 4

Mechanisms - increased coagulation activity - platelet plug formation means arterial/venous thrombosis is more likely?

Answer 4

Arterial thrombosis

Question 5

Mechanisms - increased coagulation activity - fibrin plug formation means arterial/venous thrombosis is more likely?

Answer 5

Venous thrombosis

Question 6

Mechanisms - decreased fibrinolytic activity

Answer 6

Less breakdown of clot

Question 7

Mechanisms - decreased anti-coagulant activity

Answer 7

Lower levels of naturally occurring anti-coagulants

So increased tendency to develop blood clots

Question 8

Hereditary thrombophilia - definition

Answer 8

Due to a group of genetic defects which cause increased tendency to develop blood clots

Question 9

Hereditary thrombophilia - causes (name 5)

Answer 9

Factor V leiden 
Prothrombin 20210 mutation
Anti-thrombin deficiency 
Protein C deficiency 
Protein S deficiency

Question 10

Hereditary thrombophilia - who should be screened for this condition

Answer 10

Venous thrombosis under 45 
Recurrent venous thrombosis 
Unusual venous thrombosis 
FH venous thrombosis 
FH thrombophelia

Question 11

Hereditary thrombophilia - management

Answer 11

Anti-coagulation

Question 12

Acquired thrombophilia - give an example of a condition

Answer 12

Antiphospholipid syndrome

Question 13

Acquired thrombophilia - APS - which antibody is involved

Answer 13

Lupus anticoagulant

Question 14

Recurrent thrombosis in 38 year old female. She has also had recurrent foetal loss. What is the most likely diagnosis?

Answer 14

APS

Question 15

Acquired thrombophilia - APS - investigations

Answer 15

Prolonged APTT

Look for lupus anticoagulant

Question 16

Acquired thrombophilia - APS - management - venous thrombosis

Answer 16

Anti coagulants

- don’t use warfarin if trying to get pregnant as it is teratogenic, use heparin instead

Question 17

Acquired thrombophilia - APS - management - arterial thrombosis

Answer 17

Aspirin