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 . Numerous inherited risk factors for thrombosis have been identified, improving our understanding of the pathogenesis of venous thrombosis. (See "Overview of the causes of venous thrombosis", section on 'Inherited thrombophilia'.)
Within most cases of pediatric VTE there are multiple risk factors. The most common risk factor is the presence of an indwelling central venous catheter (CVC). Other risk factors include prematurity, cardiac disease, inflammation, infection, nephrotic syndrome, cancer, surgery, trauma, use of oral contraceptives, immobilization, and structural venous abnormalities (table 1). (See "Venous thrombosis and thromboembolism in children: Risk factors, clinical manifestations, and diagnosis", section on 'Risk factors'.)
While inherited thrombophilias (IT) also contribute to the risk of VTE, the prevalence of these disorders varies considerably depending upon the specific patient population (eg, an underlying IT is far more likely to be found in an adolescent with an unprovoked VTE as compared with a neonate with CVC-related VTE).
In addition, clinicians may be asked whether IT testing is warranted in otherwise healthy children who have a family history of thrombosis or thrombophilia. The clinical utility of performing such tests varies depending on the situation, and it is important to understand the potential benefits and limitations of testing. This remains an area in which there is considerable practice variation.
The approach to and rationale for thrombophilia testing in children who have had a thrombotic event and those who have a positive family history will be reviewed here. Diagnosis and management of VTE and stroke in children and the approach to IT testing in adults are discussed in separate topic reviews:To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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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