Presentation Details
| Title: Recombinant ADAMTS13 replacement therapy in a pediatric patient with congenital thrombotic thrombocytopenic purpura. Katrina` Unpingco1, Michael F.Guerrera2, Zahara Jones1, Alison Matsunaga1. 1Hemophilia and Thrombosis Center UCSF Benioff Children's Hospitals, Oakland -San Francisco, CA, USA.2Hemostasis and Thrombosis Center, Children's National Medical Center, Washington, DC, USA |
Abstract
Congenital Thrombotic Thrombocytopenic Purpura (cTTP) is a rare inherited blood disorder, characterized by a severe deficiency in ADAMTS13, leading to the presence of large von Willebrand multimers, which increases platelet aggregation and adhesion causing microthrombi. The incidence of TTP (both congenital and acquired) is 2-6 people per million per year, with cTTP causing less than 10% of these cases. The mortality and morbidity are potentially quite high if inadequately treated due to end organ damage from microthrombi. The treatment for cTTP has historically been replacement of ADAMTS13 through regular transfusions of Fresh Frozen Plasma (FFP), S/D treated pooled human plasma or immediate pure plasma derived Factor VIII replacement. We present the case of a 12-year-old female, diagnosed with cTTP [pathogenic c.2074C>T (p.Arg692Cys)] in the neonatal period due to anemia, thrombocytopenia and hyperbilirubinemia and previously treated prophylactically with FFP. This patient unfortunately suffered recurrent transfusion reactions to FFP, including anaphylaxis, despite trial of jumbo donation and solvent treated plasma products, causing significant anxiety and overall poor quality of life. A plea for compassionate use of novel recombinant ADAMTS13 replacement, still in trials at the time, was made to the Named Patient Program (NNP at Takeda Pharmaceuticals). Our patient was successfully transitioned to recombinant ADAMTS13 replacement every 2 weeks for the last 18 months without adverse effect or acute TTP events. The burden of treatment was also reduced.
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