Thrombophilia Testing in the Pediatric Population

Introduction

Thrombophilia refers to the propensity to develop thrombosis and can be a result of acquired and/or inherited conditions. Inherited conditions are usually identified by a blood test, where acquired conditions are characterized by a patient’s clinical state or associated comorbidities. There has been a documented increase in the incidence of venous thromboembolism (VTE) in the pediatric population over the last two decades. The incidence follows a bimodal pattern with neonates having the greatest risk of thromboembolism (TE) and a second peak in incidence during puberty and adolescence. The rise in VTE has been attributed to increase in medical availability and expertise in the care of children with fatal conditions and complex chronic disease. The incidence of idiopathic VTE is only 5% in children and <1% in neonates, in contrast to 40% in the adult population. The majority of VTE in children is associated with predisposing factors such as a central venous catheter (CVC) and acute or chronic illness. Although there are some published recommendations on thrombophilia testing in children, there is no general consensus. Additionally, historical data show that there is no benefit to testing children.