Thrombophilia Flashcards
1
Q
Causes
Genetic vs Acquired
A
GENETIC
- factor V Leiden (activated protein C resistance): most common cause of thrombophilia
- prothrombin gene mutation: second most common cause
- protein C and S deficiency
ACQUIRED:
- antiphospholipid syndrome
- combined oral contraceptive pill
2
Q
Clinical features
A
VTE (dvt +pe)
3
Q
When to screen for thrombophilia?
A
Recurrent VTE or miscarriages
VTE occurs in people under 40
Odd location of clot
4
Q
Factor V leiden
Pathology
Genetics
A
Autosomal dominant mutation in gene coding for factor V so protein C is not able to inactivate it
5
Q
Factor V leiden
Investigations
A
Clotting assay
Prothrombin time is prolonged
PCR
