Schistocytic anaemia, severe thrombocytopenia, and renal dysfunction: Thrombotic microangiopathy due to severe acquired ADAMTS-13 deficiency - Case 2

Hamostaseologie

Volumn 23, Issue 3, 2003, Pages 103-108

  Winkler, A ^a   Hovinga, J A Kremer ^a   Bianchi, V ^a   Studt, J D ^a   Lämmle, Bernhard ^a  

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

ADAMTS 13; Microangiopathy; Thrombotic thrombocytopenic purpura; Von Willebrand factor cleaving protease

Indexed keywords

FRESH FROZEN PLASMA; GLUCOCORTICOID; LACTATE DEHYDROGENASE; METHYLPREDNISOLONE; PNEUMOCOCCUS VACCINE; PREDNISONE; UNCLASSIFIED DRUG; VINCRISTINE; VON WILLEBRAND CLEAVING PROTEASE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADAMTS 13 DEFICIENCY; ADULT; ANEMIA; ARTICLE; BLOOD SMEAR; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ERYTHROCYTE; FEMALE; GENE MUTATION; HUMAN; KIDNEY DYSFUNCTION; LABORATORY DIAGNOSIS; PATHOPHYSIOLOGY; PLASMAPHERESIS; PROTEIN FUNCTION; RELAPSE; REMISSION; SCHISTOCYTE; SPLENECTOMY; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREATMENT OUTCOME;

EID: 0042433447     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1619590     Document Type: Article

References (44)

1. Amorosi EL, Ultmann JE. Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Medicine (Baltimore) 1966;45:139-59.
2. Antoine G, Zimmermann K, Plaimauer B et al. ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br J Haematol 2003; 120:821-4.
3. Barbot J, Costa E, Guerra M et al. Ten years of prophylactic treatment with fresh-frozen plasma in a child with chronic relapsing thrombotic thrombocytopenic purpura as a result of a congenital deficiency of von Willebrand factor-cleaving protease. Br J Haematol 2001; 113: 649-51.
4. Bennett CL, Weinberg PD, Rozenberg-Ben-Dror K et al. Thrombotic thrombocytopenic purpura associated with ticlopidine. A review of 60 cases. Ann Intern Med 1998; 128: 541-4.
5. Bianchi V, Robles R, Alberio L et al. Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood 2002; 100: 710-3.
6. Dent JA, Galbusera M, Ruggeri ZM. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 1991; 88: 774-82.
7. Dundas S, Murphy J, Soutar RL et al. Effectiveness of therapeutic plasma exchange in the 1996 Lanarkshire Escherichia coli O157:H7 outbreak. Lancet 1999; 354: 1327-30.
8. Fujikawa K, Suzuki H, McMullen B et al. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 2001; 98: 1662-6.
9. Furlan M, Lämmle B. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving protease. Best Pract Res Clin Haematol 2001; 14: 437-54.
10. Furlan M, Robles R, Galbusera M et al. Von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 1998; 339: 1578-84.
11. Furlan M, Robles R, Lämmle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996; 87: 4223-34.
12. Furlan M, Robles R, Solenthaler M et al. Acquired deficiency of von Willebrand factor-cleaving protease in a patient with thrombotic thrombocytopenic purpura. Blood 1998; 91: 2839-46.
13. Furlan M, Robles R, Solenthaler M et al. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 1997; 89: 3097-103.
14. Gasser C, Gautier E, Steck A et al. Hämolytisch-urämische Syndrome: bilaterale Nierenrindennekrosen bei akuten erworbenen hämolytischen Anämien. Schweiz Med Wochenschr 1955; 85: 905-9.
15. George JN. How I treat patients with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Blood 2000; 96: 1223-9.
16. Gerritsen HE, Robles R, Lämmle B et al. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001;98:1654-1661
17. Gutterman LA, Kloster B, Tsai HM. Rituximab therapy for refractory thrombotic thrombocytopenic purpura. Blood Cells Mol Dis 2002; 28: 385-91.
18. Häberle J, Kehrel B, Ritter J et al. New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review. Eur J Pediatr 1999; 158: 883-7.
19. Harkness DR, Byrnes JJ, Lian EC et al. Hazard of platelet transfusion in thrombotic thrombocytopenic purpura. JAMA 1981; 246: 1931-3.
20. Kokame K, Matsumoto M, Soejima K et al. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902-7.
21. Levy GG, Nichols WC, Lian EC et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-94.
22. Mannucci PM, Canciani MT, Forza I et al. Changes in health and disease of the metalloprotease that cleaves von Willebrand factor. Blood 2001; 98: 2730-5.
23. Moake JL, Rudy CK, Troll JH et al. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982; 307: 1432-5.
24. Moake JL. Thrombotic microangiopathies. N Engl J Med 2002; 347: 589-600.
25. Moore JC, Hayward CP, Warkentin TE et al. Decreased von Willebrand factor protease activity associated with thrombocytopenic disorders. Blood 2001; 98: 1842-6.
26. Mori Y, Wada H, Gabazza EC et al. Predicting response to plasma exchange in patients with thrombotic thrombocytopenic purpura with measurement of vWF-cleaving protease activity. Transfusion 2002; 42: 572-80.
27. Moschcowitz E. Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease. Proc N Y Pathol Soc 1924; 24: 21-4.
28. Rock GA, Shumak KH, Buskard NA et al. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. Canadian Apheresis Study Group. N Engl J Med 1991; 325: 393-7.
29. Rock GA. Management of thrombotic thrombocytopenic purpura. Br J Haematol 2000; 109: 496-507.
30. Ruggenenti P, Remuzzi G. The pathophysiology and management of thrombotic thrombocytopenic purpura. Eur J Haematol 1996; 56: 191-207.
31. Schneppenheim R, Budde U, Oyen F et al. Von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood 2003; 101: 1845-50.
32. Shumak KH, Rock GA, Nair RC. Late relapses in patients successfully treated for thrombotic thrombocytopenic purpura. Canadian Apheresis Group. Ann Intern Med 1995; 122: 569-72.
33. Siegler RL, Pavia AT, Hansen FL et al. Atypical hemolytic-uremic syndrome: a comparison with postdiarrheal disease. J Pediatr 1996; 128: 505-11.
34. Tandon NN, Rock G, Jamieson GA. Anti-CD36 antibodies in thrombotic thrombocytopenic purpura. Br J Haematol 1994; 88: 816-25.
35. Thompson CE, Damon LE, Ries CA et al. Thrombotic microangiopathies in the 1980s: clinical features, response to treatment, and the impact of the human immunodeficiency virus epidemic. Blood 1992; 80: 1890-5.
36. Tsai HM, Lian EC. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med 1998; 339: 1585-94.
37. Tsai HM, Sussman II, Nagel RL. Shear stress enhances the proteolysis of von Willebrand factor in normal plasma. Blood 1994; 83: 2171-9.
38. Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 1996; 87: 4235-44.
39. Upshaw JD Jr. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med 1978; 298: 1350-2.
40. Vesely SK, George JN, Lämmle B et al. ADAMTS13 activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood 2003; 102: 60-8.
41. Veyradier A, Obert B, Houllier A et al. Specific von Willebrand factor-cleaving protease in thrombotic microangiopathies: a study of 111 cases. Blood 2001; 98: 1765-72.
42. Zeigler ZR, Shadduck RK, Gryn JF et al. Cryoprecipitate poor plasma does not improve early response in primary adult thrombotic thrombocytopenic purpura (TTP). J Clin Apheresis 2001; 16: 19-22.
43. Zheng X, Chung D, Takayama TK et al. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-63.
44. Zheng X, Pallera AM, Goodnough LT et al. Remission of chronic thrombotic thrombocytopenic purpura after treatment with cyclophosphamide and rituximab. Ann Intern Med 2003; 138: 105-8.