Background: Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman Syndrome\nis a rare inherited deficiency of ADAMTS13. Unlike the more common acquired TTP which is characterized by an\nacquired inhibitor of ADAMTS13, patients with congenital TTP have an absolute deficiency of ADAMTS13 without\nan inhibitor. Congenital TTP generally presents in infancy with repeat episodes of acute hemolysis and evidence of\nmicroangiopathy, these episodes are usually triggered by illness or physiological stress. Congenital TTP can be effectively\ntreated with plasma infusion either during acute episodes or on a prophylactic schedule to prevent episodes.\nCase presentation: We present a case of a 25 year old Caucasian woman with no know family history of hematological\ndisorders with congenital TTP. She presented with episodes of hemolysis since infancy, but without clear evidence\nof microangiopathy until the age of 25. At presentation to our center the patient was documented to have\nthrombocytopenia, elevated creatinine, and schistocytes. She was initially treated with plasma infusion at a rate of\n60 ml/hr continuously for a 24 hr period with resolution of her thrombocytopenia and hemolysis. At the time of\nwriting this article she is maintained on a prophylactic schedule of biweekly plasma infusions at 10 mg/kg and is\nmaintaining a normal platelet count with no evidence of hemolysis.\nConclusion: Congenital TTP is a rare condition, and the above case is atypical as the patient did not present with\nclear evidence of microangiopathy until adulthood. Although this a rare condition it is important for physicians to\nbe aware of as it, especially the possibility of atypical presentations, as the condition is potentially fatal and\neffective treatment exists.
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