Thrombophilia (Other Potential Genetic Risk Factors)

Question 1

Autosomal Dominant.
Asymptomatic unless combined with second risk.
Acquired: DIC, liver disease

Answer 1

Heparin Cofactor II Deficiency

Question 2

Neutralizes Xa and in complex neutralizes tissue factor-VIIa complex.

Answer 2

Tissue Factor Pathway Inhibitor Variant

Question 3

B and A1 subgroups
Higher risk for venous thrombosis.
High levels of vWF and VIIa.

Answer 3

ABO blood group

Question 4

Amino acid metabolized to methionine.
Associated with venous and arterial thrombosis.
Lab:
Ion exchange chromatography

Answer 4

Hyperhomocysteinemia

Question 5

Cleaved by thrombin to form fibrin.
Dysfibrinogenemia:
20% recurrent venous or arterial thromboembolism.
Fibrin resistant to plasmin lysis.
Reduced plasminogen activation.
Mutated fibrinogen-forms high fiber clots.
Lab:
TT and reptilase time(not affected by heparin)
Immunologic assay

Answer 5

Fibrinogen Disorders

Question 6

Increased plasma VIII and vWF.

Increased risk of thrombotic disease

Answer 6

Elevated Factor VIII and vWF

Question 7

Increased APTT
No bleeding
Defective thrombus stability

Answer 7

Factor VIII and thromboembolic disease

Question 8

tPA and PAI
Inadequate stores/release of tPA
Excess release of PAI
Contribute to thrombosis

Answer 8

Fibrinolytic System Disorders