Thrombophilia evaluations in children

Article Outline

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The past couple of decades have witnessed a significant expansion in our understanding of the genetic basis for thrombophilia. It is now appreciated that some catastrophic thrombotic events may be triggered by an underlying genetic defect. This information, however, has yet to be incorporated into pediatric clinical practice. An initial effort at this is reported in this issue of The Journal by Calhoon et al. These authors performed careful laboratory thrombophilia evaluations in 56 children in whom there was a strong family history of a thrombophilic event. They then followed these children to determine if knowledge about an underlying thrombophilic tendency altered clinical practice or had untoward consequences. Some of these children, by laboratory criteria, appeared to be at high risk of thrombotic events. Of those who underwent a complete evaluation, approximately one-third had two or more laboratory abnormalities that have been associated with thrombophilia. In many cases, this information led to clinical interventions during periods of risk such as surgery. On the other hand, given the size of this cohort, the number of such high risk events was quite modest. Although this study is not robust enough to immediately change practice, it clearly supports the recommendations of the authors, which calls for large scale multi-institutional studies.

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