Heme part 2 Flashcards
Thrombosis
Occurs when balance is disturbed between:
Procoagulant factors
Anticoagulant factors
Procoagulant factors that get disturbed in thrombosis
Coagulation factors
Platelets
Leukocytes
Anticoagulant factors that get disturbed in thrombosis
Protein C
Protein S
Antithrombin
Thrombosis RFs
Age
Smoking
Obesity
Estrogen use
Types of thrombophilia
Inherited thrombophilic conditions
Acquired thrombophilic conditions
Factor V Leiden
The MC inherited thrombophilia
Point mutation (G1691A) in the factor V gene
Leads to an amino acid substitution that renders factor V resistant to inactivation by activated protein C (APC)
Dx of factor V Leiden
APC resistance assay
-Assess the ability of protein C to inactivate factor Va
PCR testing of the gene
Prothrombin G20210A
Gene mutation is the second most common inherited risk factor for VTE
Pts have slightly higher levels of circulating prothrombin (factor II)
Dx of prothrombin G20210A
PCR testing of the prothrombin gene
Obtaining factor II activity levels is NOT helpful
Pathophysiology of antithrombin deficiency
Antithrombin is an enzyme that interrupts the coagulation process, mainly by inhibitin thrombin and activated factors IX and X
Antithrombin deficiency types
Type I: quantitative
Type II: qualitative
Antithrombin deficiencies are typically _______
Heterozygous
Homozygous deficiencies are typically not compatible with life
Acquired cases of antihrombin deficiency that must be ruled out
Acute thrombosis Heparin therapy Liver dz Nephrotic dz Protein-loosing enteropathy
Labs for antithrombin deficiency
Genetic testing
Tx for antithrombin deficiency
Antithrombin concentrates may be used as adjunctive therapy with routine pharmacologic VTE prophylaxis or as a supplement when treateing VTE
Pathophysiology of Protein C deficiency
Protein C is a vit K-dependent natural anticoagulant
It is converted during the coagulation process to APC (which inactivates coagulation factors Va and VIIIa)
Types of protein C deficiency
Type I: quantitative
Type II: qualitative
Acquired conditions in protein C deficiency
Acute thrombosis
Warfarin therapy
Liver dz
Protein-losing enteropathy
Labs for protein C deficiency
Protein C activity assay
Genetic testing
What is protein C deficiency a risk factor for?
Primary VTE
Recurrent VTE
Arterial thromboembolism
When can protein C concentrate be given?
Indicated in infants with catastrophic thrombotic complications
Pathophys of Protein S deficiency
Natural vit K-dependent anticoagulant
Cofactor for APC
Labs for protein S deficiency
Protein S activity
Free protein S antigen
Acquired conditions in protein S deficiencies
Acute thrombosis Warfarin therapy Liver dz Inflammatory states Estrogens Protein-loosing enteropathy