Thrombophilia

Question 1

What are the inherited thrombophilias

Answer 1

factor V leiden (50%) 
protein C deficiency 
protein S deficiency 
antithrombin deficiency  
prothrombin gene mutation

Question 2

Inheritance patterns of the inherited thrombophilias

Answer 2

They’re all autosomal dominant inheritance pattern

Question 3

Liver disease and risk of thrombosis

Answer 3

• used to be thought that patients with liver disease were auto-anticoagulated but research has shown that patients with liver disease are at increased risk of thrombosis

Question 4

What are the lower-risk thrombophilias?

Answer 4

• Heterozygosity for FVL or PGM

- heritable deficiencies of protein C or protein S

Question 5

Higher-risk thrombophilias

Answer 5

• AT deficiency
• homozygosity for FVL or PGM mutation
• double heterozygosity for FVL and PGM
• protein C or protein S deficiency in combination with another defect

Question 6

second most common inherited thrombophilia after FVL

Answer 6

prothrombin G20210A

Question 7

Why are estrogen and hormonal therapy prothrombitc?

Answer 7

Multiple mechanisms

• Decrease protein S
• Decreased ATIII
• Acquired resistance to protein C
• Enhances platelet activity