Hereditary thrombotic purpura

Abstract

Congenital Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease with diverse presentation that can also mimic Idiopathic Thrombocytopenic Purpura (ITP) and be misdiagnosed. After confirming diagnosis with ADAMTS13, it can simply be treated with FFP transfusion and complications can be prevented. We describe an eight year old girl previously managed as ITP and referred to Children Cancer Hospital for opinion. History, clinical examination and laboratory findings were not consistent with ITP. History of neonatal jaundice, microangiopathic haemolytic anaemia and thrombocytopenia favoured congenital TTP. Low ADAMTS13 level and improvement in platelet counts after FFP transfusion confirmed the diagnosis of congenital TTP. So cases with atypical presentation of ITP should be properly investigated to make correct diagnosis and avoid unnecessary exposure to drugs and their complications.