Thrombophilia Screen
OVERVIEW
- Thrombophilia is a predisposition to increased risk of venous and arterial thromboembolism due to haemostatic abnormalities
- It may be multifactorial, with hereditary defects of anticoagulant or procoagulant factors potentially acting in concert with acquired hematological abnormalities
- Thrombophilia screening should be considered in patients with a documented unexplained thrombotic episode or a positive family history
TESTS
- Factor V Leiden mutation
- Prothombin gene mutation
- Hyperhomocysteinemia (fasting)
- Antiphospholipid antibody syndrome (lupus anticoagulant and anticardiolipin antibodies)
- Deficiency of antithrombin III, protein C or protein S
- High concentrations of factor VIII or XI
- Increased lipoprotein (a)
ANTITHROMBIN III DEFICIENCY
Causes
- Hereditary, or Acquired:
- Post-operative state
- Liver disease
- Disseminated intravascular coagulation
- Nephrotic syndrome
- Vasculitis
Types
- I = decreased ATIII activity and immunoreactivity
- II = decreased ATIII activity, but normal antigen levels
Investigations
- ATIII activity on blood sample
- Thrombophilia screen
Management
- IV heparin
- If there is heparin resistance or low ATIII activity, either antithrombin III concentrate or FFP can be used
- monitor ATIII activity
References and Links
Journal articles
- Merriman L, Greaves M. Testing for thrombophilia: an evidence-based approach. Postgrad Med J. 2006;82:(973)699-704. [PMID 17099087]
- Rhodes EG. Thrombophilia and the surgeon. Ann R Coll Surg Engl. 1996;78:(4)331-5. [PMID 8712645]
- Tripodi A, Mannucci PM. Laboratory investigation of thrombophilia. Clin Chem. 2001;47:(9)1597-606. [PMID 11514392]
Critical Care
Compendium
Chris is an Intensivist and ECMO specialist at The Alfred ICU, where he is Deputy Director (Education). He is a Clinical Adjunct Associate Professor at Monash University, the Lead for the Clinician Educator Incubator programme, and a CICM First Part Examiner.
He is an internationally recognised Clinician Educator with a passion for helping clinicians learn and for improving the clinical performance of individuals and collectives. He was one of the founders of the FOAM movement (Free Open-Access Medical education) has been recognised for his contributions to education with awards from ANZICS, ANZAHPE, and ACEM.
His one great achievement is being the father of three amazing children.
On Bluesky, he is @precordialthump.bsky.social and on the site that Elon has screwed up, he is @precordialthump.
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