Testing children for inherited thrombophilia: more questions than answers

Abstract

Thrombotic events in children have become an increasingly common problem, particularly in paediatric tertiary care hospitals. The prevalence of inherited thrombophilia in children who develop thrombosis varies substantially depending on the population. Children who develop thrombosis, as well as those who have not but have a positive family history, are frequently tested for inherited thrombophilia. The clinical utility of performing such tests has been questioned, in both adults and children. This review will examine the practise of testing for inherited thrombophilia in children, focusing on the rationale for testing and highlighting areas in which more evidence is needed prior to making strong recommendations. Future studies, many of which are currently being performed or proposed, are necessary to address many of the unanswered questions.