Thrombophilia

Question 1

What is thrombophilia?

Answer 1

Disorder of haemostasis is in the form of a primary coagulopathy leading to a tendency to thrombosis.
Causes
- inherited: factor v Leiden, prothrombin gene mutation, protein c deficiency, protein s deficiency, anti thrombin deficiency
- acquired: anti phospholipid antibodies (anticardiolipin or anti b2 GPI), elevated homocysteine level, lupus anticoagulant, malignancy, OCP, HRT, immobilisation, pregnancy, major surgery

Question 2

What are indications for investigations for thrombophilia?

Answer 2

Recurrent or unusual thrombosis

Venous thromboembolism

Question 3

What are risk factors for DVT?

Answer 3

Family history
Thrombophilia
Previous thromboembolism
Drugs eg OCP, tamoxifen
Malignancy
Increasing age (>40)
Varicose veins
Significant illness especially heart failure and cancer
Other chronic illness
Recent surgery
Immobility
Long flights
Pregnancy/ puerperium
Obesity
Dehydration

Question 4

What are common serious manifestations of arterial thromboembolism?

Answer 4

Myocardial infarction, stroke, occlusion of the arterial system of the lower limb, central retinal artery thrombosis

Question 5

What is an important predisposing factor for arterial thrombosis?

Answer 5

Atrial fibrillation