Thrombophillia

Question 1

Pathophysiology:

What is thrombophilia?

What type of vessel does it usually cause thromboses in?

Answer 1

An increased tendency to clot

Venous

Question 2

Why are PT and aPTT unexpectedly normal?

Answer 2

Clots are forming normally but not being broken down quickly.

Question 3

Inherited:

FVL:
What factor is mutated?

Answer 3

Factor 5 - Factor V Leiden

Happens at activated protein C cleavage site
Leading to slower inactivation of factor 5
Hence activation of factor 10

Question 4

Inherited:

What other substances could people be deficient from?

Answer 4

Antithrombin III

Protein C and S

Prothrombin (factor 2) mutation

Question 5

Acquired thrombophilia:

What diseases could cause this?

Answer 5

Nephrotic syndrome 
DIC
Pregnancy 
Thrombocytosis 
Polycythaemia vera

Question 6

Screening is not usually done but is done for those with a VTE who are of have had what?

Answer 6

<40 yrs old
Recurrent unexplained VTE
FH of VTE
An unusual site of thrombosis

Question 7

Treatment?

Answer 7

Anticoagulation - usually lifelong