CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. CASE REPORT AND REVIEW

Summary. We present a ten-year follow-up of a patient with severe congenital thrombotic thrombocytopenic purpura (TTP), who received permanent replacement therapy with freshly frozen plasma (FFP) transfusions. At presentation, the patient had no activity of plasma ADAMTS-13 and an increased concentration of von Willebrand factor multimers. During treatment, the disease was complicated by occasional acute renal failure and hepatic dysfunction. These complications developed when the intervals between plasmapheresis were extended, and were partially reversible. Given the absense of ADAMTS-13 inhibitor and the early childhood history of the signs of the disease (petechiae during infections), the patient was diagnosed with congenital TTP. After the nature of the disease was thus established, plasmapheresis was replaced with regular transfusions of FFP. The intervals between transfusions were determined by monitoring the falling platelet counts and ADAMTS-13 activity. As a result of the treatment over the past 6 years, there have been no serious complications, and the patient leads an active lifestyle, studies and works. Over the course of the treatment, the patient received over 150 transfusions of FFP (amounting to over 100 liters of FFP), but despite the numerous transfusions, the patient has not contracted viral hepatitis or HIV. Thus, a tailored replacement therapy with FFP administered to a patient with congenital TTP helped to avoid severe debilitating complications, while the use of quarantine or virus-inactivated FFP minimized the risk of transfusionrelated infections.

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