Inherited Thrombophilia

Question 1

What is protein C/S def?

Answer 1

Protein C/S Deficiency:
Less inhibition of factor VIII and V
Autosomal dominant

Question 2

Factor V Leiden:

Answer 2

Factor V is resistant to liver protein C
Most common inherited thrombophilia (autosomal dominant)

Question 3

What is antithrombin lll def

Answer 3

Antithrombin III deficiency:
II, IX, X are no longer inhibited

Question 4

What is anti-phospholipid syndrome?

Answer 4

Antiphospholipid syndrome (Hughes Syndrome) – probably most likely to be seen in an exam
AP antibodies bind to cell surfaces
Risks: SLE, female, diabetes, HTN, obesity
Presentation: unexplained thrombosis (DVT / PE), recurrent miscarriage, Livedo reticularis (look up, it’s a skin thing)