G184(P) Diagnostic dilemma in a child with bleeding

Introduction Acquired Thrombotic Thrombocytopenic Purpura (TTP) is a rare and severe disease in paediatric population. The known classic pentad of symptoms (microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury, fever and neurological symptoms) appear to be more varied rather than classical, in children. Herein, we describe a rare presentation of acquired TTP in a thirteen-year-old girl. Case Report A thirteen-year-old girl previously fit and well, presented with a history of heavy vaginal bleeding, vomiting with increasing petechial rash over lower extremities and bruising to the chest wall. On presentation, she was febrile with generalised bruising. No history of trauma or significant past history nor family history to note. Initial investigations showed anaemia and thrombocytopaenia (Haemoglobin of 63 G/L, Platelet of 70 × 109/L), raised Urea of 9 mmol/L and Lactate dehydrogenase 1292 IU/L. Liver function and coagulation screen was normal. Blood film showed evidence of microangiopathic hemolytic anaemia (anisocytosis, schistocytes, spherocytes and basophilic stippling). Differential diagnosis of Hemolytic Uraemic Syndrome (HUS) and TTP was considered at first instance. She was initially stabilized in Paediatric Emergency Department where she received tranexamic acid infusion along with one unit of platelet and one unit of packed red cells. In view of blood results and blood film, Haematology team considered TTP to be the likely diagnosis, henceforth she was transferred to tertiary renal unit for total plasma exchange (TPE). In addition, she received systemic steroids and immunosuppressant (Rituximab). Further investigations revealed her ADAMTS13 (a metalloproteinase that cleaves von Willebrand factor) activity to be Conclusion Bleeding of any form is an extremely rare and severe presentation of TTP. There are only a few case reports of TTP in children till date but there are no reported paediatric cases of symptomatic bleeding as initial presentation. Acquired TTP is mainly reported in adolescence. TTP is specifically related to severe ADAMTS13 deficiency which is also used to monitor disease activity.