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Screening for inherited thrombophilia in children

Leslie Raffini, MD
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Carrie Armsby, MD, MPH


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 [1]. 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:

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Literature review current through: Nov 2017. | This topic last updated: Nov 17, 2017.
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