Thrombophilia in Children: Who to Test, How, When, and Why?

Abstract

Thrombosis and thrombotic risk factors in children are receiving increased attention, and pediatric hematologists frequently are asked to evaluate children with symptomatic thrombosis, or asymptomatic children who have relatives affected with either thrombosis or thrombophilia. The clinical utility of thrombophilia testing has become increasingly debated, both in adults and children. Children with thrombosis are a heterogeneous group, and it is unlikely that a single approach to testing or treatment is optimal or desirable. A causative role of inherited prothrombotic defects in many pediatric thrombotic events, particularly catheter-related thrombosis, has not been established. Pediatric patients most likely to benefit from thrombophilia testing include adolescents with spontaneous thrombosis and teenage females with a known positive family history who are making choices about contraception. Recent data suggest that some inherited thrombophilic defects are associated with a higher risk of recurrent venous thromboembolism in children, though optimal management of these patients has yet to be determined. The decision to perform thrombophilia testing in asymptomatic patients with a family history should be made on an individual basis after discussion with the family. Given that the field of pediatric thrombosis continues to evolve, and the settings in which many of these events occur are unique to childhood, prospective longitudinal analyses of such patients to determine outcome and response to treatment as well as the impact of known thrombophilic states on these outcomes are clearly needed.

Antithrombotic Therapy in Neonates and Children

“…501 The literature on which these reviews were based were cohort and case-control studies as well as case series, and there remain many questions about the optimal testing strategy and the impact of results on therapeutic decisions. There are insuffi cient data to support the presence or absence of thrombophilia markers as a determinant of intensity or duration of therapy and as distinct from the presence or absence of clinical precipitants of thrombosis (ie, spontaneous vs secondary thrombosis).…”

Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

“…It is postulated that the results of genetic tests should be confidential, and could not be used for discrimination in health insurance, or education and job opportunities. Vulnerable groups, such as children, should be particularly protected (14,15). It is necessary to emphasize that the results obtained by DNA-based methods show very high specificity and sensitivity.…”

Pharmacogenetics and the Treatment of Thrombophilia

“…Knowledge of a congenital thrombophilia provide the opportunity to consider lower-risk alternatives for contraception, such as progesterone-only preparations. In limited cases, the presence of inherited thrombophilia might lead to targeted thrombophylaxis in high risk situations, e.g., after a femur fracture in an obese teenager, though there are few data to document the efficacy of this approach [60].…”

“…Adolescents may have the same risk factors as the adults including smoking, pregnancy, obesity, and oral contraceptives which increase the risk of thrombosis [52]. Adolescents identified with an inherited thrombophilia may benefit from avoiding high-risk situations (prolonged immobility, dehydration), pursuing healthy lifestyles (regular exercise and weight control), and recognizing early signs and symptoms of VTE [60].…”