Hereditary thrombophilias

Question 1

what are hereditary thrombophilias

Answer 1

group of genetic defects in which affected individuals have an increased tendency to develop premature, unusual and recurrent thromboses

Question 2

when does hereditary thrombophilia become apparent

Answer 2

when patient develops a thrombosis

Question 3

when to consider hereditary thrombophilia screening

Answer 3

if * Venous thrombosis <45 years old
* Recurrent venous thrombosis
* Unusual venous thrombosis
* Family history of venous thrombosis
Family history of thrombophilia

Question 4

management of hereditary thrombophilia

Answer 4

• Advice on avoiding risk
  
  • Short term prophylaxis to prevent thrombotic events during periods of known risk
  • Short term anticoagulation to treat thrombotic events
    Long term anticoagulation if recurrent thrombotic events

Question 5

what typically causes hereditary thrombophilias

Answer 5

factor v leiden
prothrombin 20210 mutation
antithrombin deficiency
protein c deficiency
protein s deficiency