Rationale and Comments

Testing for inherited forms of thrombophilia does not influence the initial management of a first episode of provoked venous thrombosis and should not be performed routinely. The results of such testing have not been shown to either predict recurrence of venous thrombosis or inform the intensity or duration of anticoagulant therapy. Thrombophilia testing has substantial financial cost, and a positive result has the potential for misinterpretation of risk assessment leading to undue psychological distress or impact on childbearing plans, as well as possible life insurance discrimination for affected patients.

Sponsoring Organizations

• American Academy of Pediatrics – Section on Rheumatology

Sources

• National Institute for Health and Clinical Excellence guidelines

Disciplines

• Genetic
• Hematologic
• Pediatric

References

• Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, Mackie I, Makris M, Nokes T, Perry D, Tait RC, Walker I, Watson H. Clinical guidelines for testing for heritable thrombophilia. British Journal of Haematology. 2010 Apr;149(2)209-220.
  
• Chalmers E, Ganesen V, Liesner R, Maroo S, Nokes T, Saunders D, Williams M. Guideline on the investigation, management and prevention of venous thrombosis in children. British Journal of Haematology. 2011 Jul;154(2)196-207.
  
• National Institute for Health and Care Excellence. Venous thromboembolic diseases: diagnosis, management and thrombophilia testing. 2015 Nov. Retrieved from www.nice.org.uk/guidance/cg144.
  
• Scottish Intercollegiate Guidelines Network. Prevention and management of venous thromboembolism. 2014 Oct. Retrieved from www.sign.ac.uk/sign-122-prevention-and-management-of-venous-thromboembolism.html.