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]

CCC 700 6

Critical Care

Compendium

Chris is an Intensivist and ECMO specialist at the Alfred ICU in Melbourne. He is also the Innovation Lead for the Australian Centre for Health Innovation at Alfred Health and Clinical Adjunct Associate Professor at Monash University. He is a co-founder of the Australia and New Zealand Clinician Educator Network (ANZCEN) and is the Lead for the ANZCEN Clinician Educator Incubator programme. He is on the Board of Directors for the Intensive Care Foundation and is a First Part Examiner for the College of Intensive Care Medicine. He is an internationally recognised Clinician Educator with a passion for helping clinicians learn and for improving the clinical performance of individuals and collectives.

After finishing his medical degree at the University of Auckland, he continued post-graduate training in New Zealand as well as Australia’s Northern Territory, Perth and Melbourne. He has completed fellowship training in both intensive care medicine and emergency medicine, as well as post-graduate training in biochemistry, clinical toxicology, clinical epidemiology, and health professional education.

He is actively involved in in using translational simulation to improve patient care and the design of processes and systems at Alfred Health. He coordinates the Alfred ICU’s education and simulation programmes and runs the unit’s education website, INTENSIVE.  He created the ‘Critically Ill Airway’ course and teaches on numerous courses around the world. He is one of the founders of the FOAM movement (Free Open-Access Medical education) and is co-creator of litfl.com, the RAGE podcast, the Resuscitology course, and the SMACC conference.

His one great achievement is being the father of two amazing children.

On Twitter, he is @precordialthump.

| INTENSIVE | RAGE | Resuscitology | SMACC

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