Thrombophilia

Question 1

what is thrombophilia?

Answer 1

group of genetic conditions where there is an increased tendency to develop premature, unusual and recurrent thromboses

Question 2

examples of thrombophilia’s

Answer 2

factor V Leiden
prothrombin 20210 mutation
antithrombin deficiency
protein C deficiency
protein S deficiency

Question 3

when to consider screening for thrombophilia

Answer 3

venous thrombosis <45
recurrent or unusual thrombosis
FH of venous thrombosis or thrombophilia

Question 4

management of thrombophilia

Answer 4

risk reduction= compression stockings, mobilisation

anticoagulation

Question 5

when should anticoagulation be given in thrombophilia

Answer 5

• short-term prophylaxis in periods of known risk
• thrombotic event
• long-term if recurrent

Question 6

example of acquired thrombophilia

Answer 6

antiphospholipid syndrome (APLS)

Question 7

what is APLS?

Answer 7

there is a conformational change in beta2 glycoprotein 1 due to the Ab that activates primary and secondary haemostasis

Question 8

what do the autoantibodies in APLS have specificity for?

Answer 8

anionic phospholipids

Question 9

what conditions are associated with APLS autoantibodies?

Answer 9

AI disorders (SLE)
lymphoproliferative disorders
viral infections
drugs

Question 10

presentation of APLS

Answer 10

recurrent thromboses (arterial and venous)
recurrent foetal loss
mild thrombocytopenia due to ITP

Question 11

management of APLS

Answer 11

warfarin

aspirin

Question 12

what is ITP

Answer 12

idiopathic/ immune thrombocytopenic purpura that results in reduced platelets and bleeding