Thrombotic disorders

Question 1

Deep pain + swelling in left calf
Substitution mutation
Recurrent DVTs

Answer 1

Prothrombin G20210A
Substitution of guanine with adenine at 20210 position of prothrombin gene
G20210A amplifies prothrombin production + clotting, predisposing to VTE

Question 2

Abdominal pain + PV bleeding - ectopic pregnancy

Has condition in which clotting factor unable to be degraded by protein C

Answer 2

Factor V Leiden

Normally protein C inhibits factor V

Question 3

Anti-cardiolipin antibodies
Lupus anticoagulant
SLE
Recurrent miscarriages

Answer 3

Antiphospholipid syndrome

Question 4

Vasculopath smoker
Corkscrew appearance of lower limb arteries
Intermittent claudication

Answer 4

Buerger’s disease
Vasculitis of small / medium arteries + veins in hands + feet
Strongly related to smoking

Question 5

PE

Condition with persistence of 5a and 8a causing increased VTE risk

Answer 5

Protein S deficiency

Question 6

Inhibits IIa and Xa

Answer 6

Antithrombin