Thrombophilia in neonates and children

Haema 2014; 5(1):99-106

by Helen Platokouki-Komitopoulou

Haemostasis Unit and Haemophilia Centre, “Aghia Sophia” Children’s Hospital, Athens, Greece

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Thrombosis is a rare event during childhood. Nevertheless, its incidence may increase in the years to come as children with previously fatal underlying diseases have longer overall survival, intervention techniques predisposing to thrombosis are common practice in intensive care units, advanced diagnostic imaging methods are currently available and paediatricians are more sensitized. Besides environmental risk factors for thrombosis, many polymorphisms in genes encoding almost all haemostatic proteins have been found. The role of those defects in the pathogenesis of thrombosis has not as yet been clear. As thrombophilia is considered either a clinical predisposition (spontaneous, extended, recurrent thrombotic episodes or thrombosis at a young age) or the laboratory identification of congenital (or acquired) risk factors for thrombosis. In recent years, paediatric haematologists are frequently asked to evaluate children for thrombophilia testing, although both the cost of the testing has been dramatically increased and the clinical utility of laboratory findings has become increasingly debated. Children most likely to benefit from thrombophilia testing include patients with acute thrombosis (decision for the duration of anticoagulation therapy in selected cases) or individuals at high risk situations for thrombosis with a known positive family history, mainly in first degree relatives. Abnormal laboratory findings of thrombophilia tests are not necessarily or causatively associated with thrombosis in asymptomatic children. Conversely, normal test results may provide false reassurance. Further efforts may lead to the precise estimation of the role and the contribution for thrombosis risk of each thrombophilic factor.