Thrombophilia

Exam Cram

• Thrombophilias means 'loves to clot' & these are disorders with high rates of thrombosis

• Factor V Leiden is the commonest thrombophilia

• Thrombophilias are rare but important causes of venous clots: DVT, PE & arterial strokes and myocardial infarction

• Testing for factor V Leiden is controversial due to its high asymptomatic rates

Thrombophilia screen

Diseases (7)

1. Protein C deficiency

2. Protein S deficiency

3. Antithrombin deficiency (previously thrombin III)

4. Factor V Leiden (controversial)

5. Homocystinuria

6. Prothrombin gene mutation

7. Antiphospholipid syndrome (APS): anti B2 glycoprotein-1, anti-cardiolipin

Thrombus disease Overview

• Arterial

  • Stroke: 

  • Myocardial infarction: 

  • Mesenteric ischaemia & Ischaemic Colitis 

• Venous

  • DVT 

  • Pulmonary Embolus 

  • Cerebral Vein Thrombosis 

  • Budd Chiari Syndrome 

  • Renal vein thrombosis

Indications for thrombophilia

• Unusual features: young, distribution, recurrance in:

  • DVT , Pulmonary Embolus 

  • Stroke, Myocardial infarction

• As standard: 

  • Cerebral Vein Thrombosis 

Resources and References

Written in 2025