Thrombotic thrombocytopenic purpura (TTP) is a rare multisystemdisorder characterized by single or recurrent episodes of thrombocytopenia,microangiopathic hemolytic anemia and widespread microvascular thrombosis,which causes significant morbidity and mortality unless promptly recognizedand treated. The underlying pathogenesis is a defect in von Willebrandfactor (vWF) cleaving protease, called “A Disintegrin and Metalloproteinasewith Thrombospondin Type 1 Repeats 13 (ADAMTS-13)”. There are 2forms: congenital TTP (ADAMTS-13 gene mutations) and acquired TTP(autoantibodies and ADAMTS-13 deficiency). We presented two patients whoinitially presented with thrombotic microangiopathy and were later diagnosedwith TTP upon demonstration of the deficiency in ADAMTS-13 activity.
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1. George JN. Thrombotic thrombocytopenic purpura. N Engl J Med 2006; 354: 1927-1935.
2. Borgi A, Khemiri M, Veyradier A, Kazdaghli K, Barsaoui S. Congenital thrombotic thrombocytopenic purpura: Atypical presentation and new ADAMTS 13 mutation in a Tunisian child. Mediterr J Hematol Infect Dis 2013; 5: e2013041.
3. Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010; 31: 11-19.
4. Kremer Hovinga JA, Studt JD, Lämmle B. The von Willebrand factor-cleaving protease (ADAMTS-13) and the diagnosis of thrombotic thrombocytopenic purpura. Pathophysiol Haemost Thromb 2003/2004; 33: 417-421.
5. Wang J, Peiris N. Thrombotic thrombocytopenic purpura revisited: Upshaw-Schulman syndrome in a 20-year-old male. The Medicine Forum 2012; 13: 43-45.
6. Sarode R, Bandarenko N, Brecher ME, et al. Thrombotic thrombocytopenic purpura: 2012 American Society for Apheresis (ASFA) consensus conference on classification, diagnosis, management, and future research. J Clin Apher 2014; 29: 148-167.
7. Loirat C, Coppo P, Veyradier A. Thrombotic thrombocytopenic purpura in children. Curr Opin Pediatr 2013; 25: 216-224.
8. Fujimura Y, Matsumoto M, Isonishi A, et al. Natural history of Upshaw-Schulman Syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost 2011; 9: (Suppl 1) 283-301.
9. Trachtman H. HUS and TTP in children. Pediatr Clin North Am 2013; 60: 1513-1526.
10. Tsai HM. The kidney in thrombotic thrombocytopenic purpura. Minerva Med 2007; 98: 731-747.
11. Mise K, Ubara Y, Matsumoto M, et al. Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: Acase report. BMC Nephrol 2013; 14: 156.
12. Jayabose S, Nowicki TS, Dunbar J, Levendoglu-Tugal O, Ozkaynak MF, Sandoval C. Acquired thrombotic thrombocytopenic purpura in children: A single institution experience. Indian J Pediatr 2013; 80: 570-575.
13. George JN. Congenital thrombotic thrombocytopenic purpura: Lessons for recognition and management of rare syndromes. Pediatr Blood Cancer 2008; 50: 947- 948.
14. Blombery P, Scully M. Management of thrombotic thrombocytopenic purpura: Current perspectives. J Blood Med 2014; 5: 15-23.
15. George JN, Al-Nouri ZL. Diagnostic and therapeutic challenges in the thrombotic thrombocytopenic purpura and hemolytic uremic syndromes. Hematology Am Soc Hematol Educ Program 2012; 2012: 604-609.
16. Appel GB. Thrombotic microangiopathies: Similar presentations, different therapies. Cleve Clin J Med 2017; 84: 114-130.
17. Scully M, Hunt BJ, Benjamin S, et al; British Committee for Standards in Haematology. Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. Br J Haematol 2012; 158: 323- 335.