Screening for inherited thrombophilia in children
- Leslie Raffini, MD
Leslie Raffini, MD
- Associate Professor of Pediatrics
- University of Pennsylvania
Thrombotic events (venous thromboembolism [VTE] and stroke) in children have become increasingly recognized in pediatric tertiary care hospitals, although they are rare in healthy children . Over the past several decades, numerous inherited risk factors for thrombosis have been identified, improving our understanding of the pathogenesis of venous thrombosis. The majority of children with VTE have multiple risk factors; the most common risk factor is the presence of a central (indwelling) venous catheter (CVC). Other risk factors include surgery, trauma, use of oral contraceptives, immobilization, infection, systemic lupus erythematosus, structural venous abnormalities, and cancer. (See "Venous thrombosis and thromboembolism in infants and children: Risk factors and clinical manifestations".)
While inherited prothrombotic disorders also contribute to the risk of VTE, the prevalence of these disorders varies considerably depending upon the specific patient population (eg, an underlying inherited thrombophilia [IT] is more likely to be found in an adolescent with an unprovoked VTE as compared with a neonate with CVC-related VTE). Because of this variation, the role of screening all children with VTE for IT has become more controversial. In addition, IT testing of otherwise healthy children who have a family history of thrombosis or thrombophilia has become more common. The clinical utility of performing such tests has been increasingly scrutinized, and it is important to understand the potential benefits and limitations of testing. Recommendations and rationale for thrombophilia testing in children who have had a thrombotic event as well as those who have a positive family history will be reviewed here, although this remains an area in which there is significant practice variation.
Screening for inherited thrombophilia in adults is discussed elsewhere:
●Asymptomatic adults (eg, individuals with a family history of VTE) (see "Screening for inherited thrombophilia in asymptomatic individuals")
●Adults with VTE (see "Overview of the causes of venous thrombosis", section on 'Inherited thrombophilia')
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- INHERITED THROMBOPHILIA (IT)
- CHALLENGES IN INTERPRETATION
- IT TESTING IN CHILDREN WHO HAVE HAD A VENOUS THROMBOTIC EVENT (VTE)
- What is the association between VTE and IT?
- Will the results of IT testing affect the acute management of VTE?
- Will the results of IT testing affect the duration of anticoagulation?
- Are there other benefits of identifying an IT?
- Screening recommendations
- - First episode of CVC-related VTE
- - Non-CVC-related VTE
- - Recurrent VTE
- - Which tests should be performed
- - Timing of screening
- IT TESTING IN CHILDREN WHO HAVE A FAMILY HISTORY OF THROMBOSIS OR THROMBOPHILIA
- Potential benefits
- Screening recommendations
- Clinical implications
- IT TESTING IN CHILDREN WHO HAVE HAD A STROKE
- SUMMARY AND RECOMMENDATIONS