Thrombophilia

Question 1

What is thrombophilia?

Answer 1

Prothrombotic state, propensity for VTE due to an abnormality in the coagulation system

Question 2

What are inherited causes of thrombophilia?

Answer 2

group 1 = reduced levels of inhibitors of coagulation cascade. Antithrombin III deficiency, protein C or S deficiency, plasminogen deficiency

group 2 = increased levels or function of coagulation factors e.g. factor V leiden, prothrombin gene mutation, sickle cell

group 3 = mixed or unknown

Question 3

What are acquierd causes of thrombophilia?

Answer 3

Antiphospholipid antibodies e.g. lupus anticoagulant

Surgery

HIT

Nephrotic syndrome

OCP or oestrogen therapy

Smoking

obesity

Malignancy

MPD

DIC

behcet’s

Question 4

How does thrombophilia present?

Answer 4

Usually signs and symptoms of a DVT or PE

Asymptomatic

Question 5

What Ix for thrombophilia?

Answer 5

FBC, blood smear, clotting, D dimer

Thrombophilia test: if recurrent VTE or < 50, unprovoked VTE. Includes proteins C and Sm antithrombin, APC resitance, PCR for prothrombin gene mutation

PCR for factor V leiden

Lupus anticoagulant: if SLE or antiphospholipid syndrome suspected, and to investigate prolonged APTT

Question 6

What is Rx for thrombophilia?

Answer 6

If asymptomtatic, don’t need any

treat cause

LMWH or fondaparinux if acute medical illnes
stockings for surgery patients