Thrombophilia in children with venous thrombosis

Abstract

Introduction. Venous thrombosis is a rare condition in children, but now there is a significant increase in cases among hospitalized children. Thrombosis in children is a multifactorial disorder, there are various risk factors, both inherited and acquired, such as a central venous catheter.The aim of the study is to evaluate the incidence of thrombophilia among patients aged 0 to 18 years after a history of deep vein thrombosis (DVT).Materials and methods. We have retrospectively analyzed the medical records of young patients (0–18 years) of from 2017 to 2021 of the Outpatient Consultative Unit of Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology and selected patients with objectively confirmed DVT, who were examined to exclude thrombophilia. Patients who did not have a full range of laboratory tests were not accounted for in the study. The patients who had DVT during infancy had additional tests at the age older than one year.All patients were divided into 2 groups: with and without thrombophilia. Chi-square test was used to assess the statistical significance of differences between groups.Results. We found 149 children with DVT: 103 patients were completely investigated for thrombophilia and a follow-up investigation is required for another 46 patients. Among 103 patients we didn’t confirm any prothrombotic condition in 54 of them, and thrombophilia was present in 49 patients. The prevalence of thrombophilia was estimated among children with DVT (n = 103): protein C deficiency – 3 %, antithrombin III deficiency – 4 %, protein S deficiency – 4 %, antiphospholipid syndrome – 1 %, mutation FV Leiden (hetero) – 7 %, FII G20210A (hetero) – 8 %, combined – 8 %, others – 13 % (increased concentration of fVIII, increased concentration of lipoprotein (a), high level of homocysteine).While comparing groups of patients with and without thrombophilia by age and sex, and by various clinical characteristics (localization of thrombus, underline clinical condition and some others) no statistically significant differences were revealed.Conclusion. Thrombophilias contribute to the occurrence of thrombosis in children. Results of thrombophilia screening rarely influence acute treatment decisions, so it is important to understand the limitations of this approach. Nevertheless, in some cases it is important to try to identify children with a tendency to develop thrombosis, since these patients may be candidates for prophylactic anticoagulation in situations of high risk of developing venous thromboembolism.