Abstract
Although relatively rare (prevalence unknown), thromboembolic complications do occur in paediatric patients and cause significant morbidity with occasional mortality. The literature regarding thrombosis in childhood is limited to a few case reports, therefore most of the information derives from studies in adults population. The main inherited abnormalities that predispose to thrombosis are deficiencies of natural inhibitors of haemostasis(antithrombin III-ATIII -, protein C-PC -, protein S-SP), and dysfibrinogenaemia. Other inherited abnormalities for which an association has not been proved are: plasminogen deficiency (plg), heparin cofactor II (HC-II) deficiency, histidine-rich acid glycoprotein, increased levels of plasminogen activator inhibitor (PAI) or reduced levels of tissue plasminogen activator(t-PA). Recently, inherited resistance to activated protein C (APCr) was described as a pathogenic risk factor of thrombosis. APCr is caused by a single point mutation in the gene for factor V in more than 90% of the cases.
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