Atypical Presentation of Thrombotic Thrombocytopenic Purpura without Hematological Features
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease, usually diagnosed with high index of suspicion. The pathophysiology of TTP is due to severe deficiency of von Willebrand factor cleaving protease, known as ADAMTS 13. Early diagnosis is crucial as without treatment TTP is associated with high mortality rate. Plasma exchange is currently the mainstay of treatment. Nonetheless, the classical pentad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, neurological dysfunction, kidney dysfunction and fever are seen only in 40 percent of the patients. MAHA and thrombocytopenia are the common presenting features. Presentation with thrombotic complication without hematological features (MAHA and thrombocytopenia) is rare and makes the diagnosis difficult. Herein, we report an unusual presentation of a 53-year-old male, who was initially presented in 2014 with classical features of TTP, however had an atypical presentation of TTP in 2016 with only neurological features without hematological features.
2. Tsai HM. Thrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiency. Hematol Oncol Clin North Am. 2007; 21(4):609–32.
3. Gerritsen HE, Robles R, Lammle B, et al. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001; 98(6):1654–1661.
4. Tsai HM, Chandler WL, Sarode R, et al. von Willebrand factor and von Willebrand factor-cleaving metalloprotease activity in Escherichia coli O157:H7-associated hemolytic uremic syndrome. Pediatr Res. 2001; 49(5):653–59.
5. Aksay E, Kiyan S, Ersel M, et al. Thrombotic thrombocytopenic purpura mimicking acute ischemic stroke. Emerg Med J. 2006; 23(9):e51.
6. George JN. How I treat patients with thrombotic thrombocytopenic purpura: 2010. Blood 116(20):4060–4069.
7. Zhu T, Pan K, Wang Y. Successful resuscitation with thrombolysis of pulmonary embolism due to thrombotic thrombocytopenic purpura during cardiac arrest. Am J Emerg Med. 2015; 33(1):132.e3-132.e4.
8. Amorosi EL, Ultmann JE. Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Medicine. 1966; 45(2):139–160.
9. Kalish Y, Rottenstreich A, Rund D, et al. Atypical presentations of thrombotic thrombocytopenic purpura: a diagnostic role for ADAMTS13. J Thromb Thrombolysis. 2016; 42(2):155–60.
10. Moschowitz E. An acute febrile pleiochromic anemia with hyaline thrombosis of the terminal arterioles and capillaries: an undescribed disease. Arch Intern Med (Chic). 1925; 36(1):89–93.
11. Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413(6855):488-94.
12. Tsai HM, Lian EC. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med Nov 26 1998; 339(22):1585–94.
13. Reese JA, Muthurajah DS, Kremer Hovinga JA, et al. Children and adults with thrombotic thrombocytopenic purpura associated with severe, acquired Adamts13 deficiency: Comparison of incidence, demographic and clinical features. Pediatr Blood Cancer. 2013; 60(10):1676-82.
14. Sarode R, Gottschall JL, Aster RH, et al. Thrombotic thrombocytopenic purpura: early and late responders. Am J Hematol. 1997; 54(2):102–107.
15. Sarode R. Atypical Presentations of Thrombotic Thrombocytopenic Purpura: A Review. J Clin Apher. 2009; 24(1):47–52.
16. Ruggeri ZM. The role of von Willebrand factor in thrombus formation. Thromb Res. 2007; 120 Suppl 1:S5-9.
17. O’Brien TE, Crum ED. Atypical Presentations of Thrombotic Thrombocytopenic Purpura. Int J Hematol. 2002; 76(5):471-3.
18. Sonneveld MAH., de Maat MPM, Leebeek FWG Von Willebrand factor and ADAMTS13 in arterial thrombosis: a systematic review and meta-analysis. Blood Rev. 2014; 28(4); 167-178.
19. Rock GA, Shumak KH, Buskard NA, et al. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. N Engl J Med. 1991; 325(6):393-7.
20. Peyvandi F, Scully M, Kremer Hovinga JA, et al. Caplacizumab for Acquired Thrombotic Thrombocytopenic Purpura. N Engl J Med 2016; 374(6):511-522.
21. Blombery P, Scully M. Management of thrombotic thrombocytopenic purpura: current perspectives. J Blood Med. 2014; 5: 15-23.
22. Page EE, Kremer Hovinga JA, Terrell DR, et al. Clinical importance of ADAMTS13 activity during remission in patients with acquired thrombotic thrombocytopenic purpura. Blood. 2016; 128(17):2175–2178.
23. Jin M, Casper TC, Cataland SR, et al. Relationship between ADAMTS13 activity in clinical remission and the risk of TTP relapse. Br J Haematol. 2008; 141(5):651–8.
24. Peyvandi F, Lavoretano S, Palla R, et al. ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission. Haematologica. 2008; 93(2):232–9.
25. Hie M, Gay J, Galicier L, et al. French Thrombotic Microangiopathies Reference Centre. Preemptive rituximab infusions after remission efficiently prevent relapses in acquired thrombotic thrombocytopenic purpura. Blood. 2014; 124(2):204–210
26. Lim W, Vesely SK, George JN. The role of rituximab in the management of patients with acquired thrombotic thrombocytopenic purpura. Blood. 2015; 125(10):1526–31.
|Issue||Vol 14, No 3 (2020)|
|Thrombotic thrombocytopenic purpura (TTP); ADAMTS 13; Microangiopathic hemolytic anemia; Thrombocytopenia|
|Rights and permissions|
|This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.|