Thrombophilia

Question 1

Name one thrombophilia disorder

Answer 1

Antiphospholipid syndrome
Factor V leiden
antithrombin III deficiency

Question 2

Define thrombophilia

Answer 2

coagluopathy predisposing to thrombosis, usually venous

Question 3

Name two components of thrombophilia screen

Answer 3

 FBC, clotting, fibrinogen concentration
 Factor V Leiden / APC resistance
 Lupus anticoagulant and anti-cardiolipin Abs
 Assays for AT, protein C and S deficiencies
 PCR for prothrombin gene mutation

Question 4

Name two indications to conduct a thrombophilia screen

Answer 4

  Arterial thrombosis <50yrs (?APL) 
  Venous thrombosis <40yrs c¯ no RFs 
  Familial VTE 
  Unexplained recurrent VTE 
  Unusual site: portal, mesenteric 
  Recurrent foetal loss 
  Neonatal

Question 5

Name two complications of antiphospholipid syndrome

Answer 5

Obstetric complications
Coagulation defect
Kidney failure
Stroke
PE/pulmonary HTN
CVD

Question 6

Which is the most common inherited thrombophilia?

Answer 6

factor V leiden

Question 7

A 27-year-old woman is admitted after developing dyspnoea associated with pleuritic chest pain. A D-dimer taken on admission is elevated and subsequent CTPA shows a pulmonary embolism. Her past medical history includes a giving birth to her son 12 months ago (full term, vaginal delivery) and anxiety. She reports that her 47-year-old mother has had two deep vein thromboses in the past 10 years. Which inherited thrombophilia is she most likely to have?

Answer 7

factor V leiden