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Screening for inherited thrombophilia in children

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

INTRODUCTION

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]. 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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Literature review current through: Nov 2016. | This topic last updated: Wed Sep 28 00:00:00 GMT+00:00 2016.
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