LAUSR

Background Hereditary Thrombophilia refers to the propensity to develop thrombosis. A homozygous abnormality or combination of two heterozygous abnormal factors can lead to clinically apparent thrombotic disorders at an early age. The aim of our study was to analyse the epidemiology, clinical presentation, causes, and management of hereditary thrombophilia in newborn. Methods It’s a retrospective study of all cases of hereditary thrombophilia registered in the neonatal intensive care unit of Sfax between 2014 and 2017. Results Seven full term newborns were included. They were 5 female and 2 male. Common clinical features were seizures, acute ischemic limb, mesenteric ischemia and skin necrosis (mean age of onset =5.21 days). Imaging identified stroke in 6 cases, subrenal aorta thrombosis in one case. We identified one case of protein S defesciency, 4 cases of isolated factor V leiden mutation, one case of isolated hyperhomocysteinemia and one case of combined factor V Leiden and hyperhomocysteinemia. The last one was presented with multiple cerebral and abdominal thrombosis. Family screening was performed in 3 cases. Treatment was based on Fresh frozen plasma transfusion in newborn who had severe protein C deficiency. None of our patients was treated with thrombolysis. During follow-up, there was no recurrence of thrombotic events. Three patients had neurological deficit. Two newborns died of disseminated intravascular coagulation. Conclusions Thrombotic disorders at an early age should lead to performing thrombophilia testing. Family screening is essential to detect asymptomatic deficiency . Clinical features and treatment depend on thrombosis localization and extension.