Inherited Thrombocytopenia and Thrombasthenia Among Egyptian Children and Adolescents with Un-Diagnosed Bleeding or Mis-Diagnosed as ITP

Abstract

ifferentiating between congenital and acquired platelet disorders (either thrombocytopenia or thrombasthenia) is very complex and requires medical experience and a careful assessment of a patient’s personal and family history of bleeding episodes. Most thrombocytopenias in children are attributed to an immunologic mechanism resulting in increased peripheral consumption of platelets for which an atypical clinical course should serve as a red flag and be followed by proper studies to exclude heritable conditions. We aimed to detect inherited thrombocytopenias and or thromabasthenia with low platelet count in patients diagnosed with persistent or chronic ITP with no response to initial immune-modulatory therapy as well as studying patients with unexplained bleeding disorders with normal platelet number and coagulation profile. This cross sectional study extended from 8/2016 till 12/2017 and included patients with bleeding tendency either with normal platelet count and coagulation profile or with thrombocytopenia of more than 3 months duration not responding to initial management of ITP including IVIG and steroids attending Pediatric Hematology Clinic of Ain Shams University Hospitals, Cairo, Egypt.