Thrombophilia Flashcards
Thrombosis
inappropriate formation of plt or fibrin clots that obstruct blood vessels
embolism
piece of thrombotic material that breaks off from the thrombus & travels through circulatory system to be lodged at a distant site
types of thrombus formations (2)
arterial & venous
Arterial Thrombi
formed in arteries, composed primarily of plts & fibrin
80% of AMI are due to arterial thrombosis
Venous thrombi
strong relation w/ pulmonary embolism & venous thrombosis in lower limbs
Hereditary Thrombophillia
antithrombin deficiency
Protein C deficiency
Protein S deficiency
Antithrombin deficiency
without this heparin will not work!
autosomal dominant
2 types - quantitative vs qualitative
decreased inhibition of Factor Xa & thrombin
Heterozygous Antithrombin
reduced AT activity of 30-60%
thrombotic issues increase w/ age
Homozygous type 1 antithrombin deficiency
incompatible with fetal survival
Homozygous type 2 antithrombin deficiency
associated w/ life threatening thrombotic problems
Specific tests for antithrombin deficiency
assays: progressive AT & Heparin cofactor*****
Protein C Deficiency
vitamin K dependent inhibitor of coagulation
protein C is converted to an active form by thrombin bound to endothelial cells which degrades factor Va & VIIIa (!!!!)
autosomal dominant
2 types
Protein C deficiency type 1
more common
decrease of functional activity to 40-60% & decrease of PC antigen levels
Protein C deficiency type 2
decrease in functional activity levels but normal PC antigen levels
Protein C deficiency specific lab tests:
PC levels in plasma
Antigen assay
functional activity assay