PATH - Hereditary thrombosis syndromes Flashcards
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.
