PATH - Hereditary thrombosis syndromes Flashcards
(4 cards)
Antithrombin deficiency
Inherited deficiency of antithrombin
no direct effect on the PT, PTT, or thrombin time but
diminishes the increase in PTT following heparin administration
acquired: renal failure/nephrotic syndrome–>antithrombin loss in urine–>DEC inhibition of factors IIa and Xa.
INC risk of venous clots!
Factor V Leiden
Production of mutant factor V that is resistant to degradation by activated protein C
Most common cause
of inherited hypercoagulability in Caucasians.
Complications include DVT, cerebral vein thromboses, recurrent pregnancy loss.
INC risk of venous clots!
Protein C or S deficiency
DEC ability to inactivate factors Va and VIIIa
INC risk of thrombotic skin necrosis with hemorrhage
after administration of *warfarin. If this occurs, think protein C deficiency.
INC risk of venous clots!
“Together, protein C
Cancels, and protein S Stops, Coagulation”
Prothrombin gene Mutation
Mutation in 3′ untranslated region–>INC production of prothrombin–>INC plasma levels and venous
clots.
