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4 Cards in this Set

  • Front
  • Back
How does a mutation in Factor V (Factor V Leiden) cause thrombophilia.
mutation in Factor V makes it resistant to breakdown by protein C (increased coagulation)

also decreases activity of protein C in breaking down other parts of the clotting cascade (decreased anticoagulation)
What is the risk of VTE in pregancy with the following mutations:
Factor V Homozygote
Factor V Heterozygote
Prothrombin gene homozygote
Prothrombin gene heterozygote
Factor V + Prothrombin gene double heterozygote
ATIII
Prot C
Prot S
Factor V hetero: <0.3%
Factor V homo 1.5%
PT gene mut hetero <0.5%
PT gene homo 2.8%
Factor V + PT hetero 4.7%
AT III 3-7%
Prot C 0.1-0.8%
Prot S 0.1%
Which thrombophilias are most common?
Factor V and PT gene mutation
Most common cause of VTE in pregnancy?
Factor V Leiden (40% VTE) hetero
PT Gene mutation (17%)
Prot C (14%)
Prot S
AT III (1%)