Thrombotic thrombocytopenic purpura related to an inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): Update and perspectives;Purpura thrombotique thrombocytopénique par déficit héréditaire en ADAMTS13 (syndrome d'Upshaw-Schulman): Actualités et perspectives

Hematologie

Volumn 11, Issue 5, 2005, Pages 321-334

  Veyradier, Agnès ^a,b   Loirat, Chantal ^c   Girma, Jean Pierre ^a   Ribba, Anne Sophie ^a   Wolf, Martine ^a,b   Coppo, Paul ^d   Meyer, Dominique ^a,b  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL ANTOINE BÉCLÈRE   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d HÔPITAL SAINT ANTOINE   (France)

Author keywords

ADAMTS13; Mutations; Thrombotic thrombocytopenic purpura; Upshaw Schulman syndrome; Von Willebrand factor

Indexed keywords

GLYCOPROTEIN; METALLOPROTEINASE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

BIRTH; BRAIN ISCHEMIA; GENOTYPE; HEMOLYSIS; HEMOLYTIC ANEMIA; HUMAN; KIDNEY ISCHEMIA; MICROCIRCULATION; MICROVASCULATURE; PATHOPHYSIOLOGY; PHENOTYPE; RELAPSE; REMISSION; REVIEW; THROMBOCYTE ADHESION; THROMBOCYTE AGGREGATION; THROMBOCYTOPENIA; THROMBOGENESIS; THROMBOTIC THROMBOCYTOPENIC PURPURA; UPSHAW SCHULMAN SYNDROME;

EID: 28944433788     PISSN: 12647527     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (72)

1. Sadler JE, Moake JL, Miyata T, George JN. Recent advances in thrombotic thrombocytopenic purpura. Hematology (Am Soc Hematol Educ Program) 2004; 10: 407-23.
2. Moschcovitz E. Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease. Proc NY Pathol Soc 1924; 24: 21-4.
3. Schulman I, Pierce M, Lukens A, Currimbhoy Z. Studies on thrombopoeisis. A factor in normal human plasma required for platelet production; chronic thrombocytopenia due to its deficiency. Blood 1960; 16: 943-57.
4. Dacie JV, Moliison PL, Richardson N, Selwyn JG, Shapiro L. Atypical congenital haemolytic anaemia. QJ Med 1953; 85: 79-98.
5. Monnens LA, Retera RJ. Thrombotic thrombocytopenic purpura in a neonatal infant. J Pediatr 1967; 71: 118-23.
6. Wallace DC, Lovrie A, Clubb JS, Carseldine DB. Thrombotic thrombocytopenic purpura in four siblings. Am J Med 1975; 58: 724-34.
7. Upshaw JD. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med 1978; 298: 1350-2.
8. Rennard S, Abe S. Decreased cold-insoluble globulin in congenital thrombocytopenia (Upshaw-Schulman syndrome). N Engl J Med 1979; 300: 368.
9. Moake JL, Rudy CK, Troll JH, Weinstein MJ, Colannino NM, Azocar NM, Seder RH, Hong SL, Deykin D. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982; 307: 1432-5.
10. Asada Y, Sumiyoshi A, Hayashi T, Suzumiji J, Kaketani K. Immunochemistry of vascular lesions in thrombotic thrombocytopenic purpura, with special references to factor VIII related antigen. Thromb Res 1985; 38: 469-79.
11. Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, Solenthaler M, von Lämmle B. Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 1998; 339: 1578-84.
12. Tsaï HM, Chun-Yet Lian E. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med 1998; 339: 1585-94.
13. 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.
14. Tsaï 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.
15. Levy GG, Nichols WC, Lian EC, Foroud T, Mc Clintick JN, Mc Gee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarod R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw Jr. JD, Ginsburg D, Tsaï HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-94.
16. Furlan M, Robles R, Morselli B, Sandoz P, Lämmle B. Recovery and half-life of von Willebrand factor-cleaving protease after plasma therapy in patients with thrombotic thrombocytopenic purpura. Thromb Haemost 1999; 81: 8-13.
17. Fujikawa K, Suzuki H, McMullen B, Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloprotease family. Blood 2001; 98: 1662-6.
18. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-63.
19. Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nagagaki T, Nozaki C. À novel metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease? J Biochem (Tokyo) 2001; 130: 475-80.
20. Zhou W, Inada M, Lee TP, Benten D, Lyubsky S, Bouhassira EE, Gupta S, Tsai HM. ADAMTS13 is expressed in hepatic stellate cells. Lab Invest 2005; (Epub ahead of print).
21. Majerus EM, Zheng XL, Tuley EA, Sadler JE. Cleavage of the ADAMTS13 propeptide is not required for protease activity. J Biol Chem 2003; 278: 46643-8.
22. Zheng X, Nishio K, Majerus EM, Sadler JE. Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J Biol Chem 2003; 278: 30136-41.
23. Soejima K, Matsumoto M, Kokame K, Ishizashi H, Maeda H, Nozaki C, Miyata T, Fujimura Y, Nakagaki T. ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood 2003; 102: 3232-7.
24. Kavakli K, Canciani MT, Mannucci PM. Plasma levels of the von Willebrand factor-cleaving protease in physiological and pathological conditions in children. Pediatr Hematol Oncol 2002; 19: 467-73.
25. Schmugge M, Dunn MS, Amankwah KS, Blanchette VS, Freedman J, Rand ML. The activity of the von Willebrand factor-cleaving protease ADAMTS-13 in newborn infants. J Thromb Haemost 2003; 2: 228-33.
26. Sanchez-Luceros A, Farias CE, Amaral MM, Kempfer AC, Votta R, Marchese C, Salviu MJ, Woods AL, Meschengieser SS, Lazzari MA. Von Willebrand factor-cleaving protease (ADAMTS13) activity in normal non-pregnant women, pregnant and post-delivery women. Thromb Haemost 2004; 92: 1320-6.
27. Reiter RA, Knöbl P, Varadi K, Turecek PL. Changes in von Willebrand factor-cleaving protease (ADAMTS13) activity after infusion of desmopressin. Blood 2003; 101: 946-8.
28. Mannucci PM, Capoferri C, Canciani MT. Plasma levels of von Willebrand factor regulate ADAMTS13, its major cleaving protease. Br J Haematol 2004; 126: 213-8.
29. Mannucci PM, Canciani MT, Forza I, Lassuna F, Lattuada A, Rossi E. Changes in health and disease of the metalloprotease that cleaves von Willebrand factor. Blood 2001; 98: 2730-5.
30. Lattuada A, Rossi E, Calzarossa C, Candolfi R, Mannucci PM. Mild to moderate reduction of the von Willebrand factor-cleaving protease (ADAMTS13) in pregnant women with HELLP microangiopathic syndrome. Haematologica 2003; 88: 1029-34.
31. Moore JC, Hayward CP, Warkentin TE, Kelton JG. Decreased von Willebrand factor-cleaving protease activity associated with thrombocytopenic disorders. Blood 2001; 98: 1842-6.
32. Veyradier A, Obert B, Houllier A, Meyer D, Girma JP. Specific von Willebrand factor-cleaving protease in thrombotic microangiopathies: a study of 111 cases. Blood 2001; 98: 1765-72.
33. Reiter RA, Varadi K, Turecek PL, Jilma B, Knobl P. Changes in ADAMTS13 (von Willebrand factor-cleaving protease) activity after induced release of von Willebrand factor during acute systemic inflammation. Thromb Haemost 2005; 93: 554-8.
34. Veyradier A, Meyer D. Thrombotic thrombocytopenic purpura and its diagnosis. J. Thromb. Haemost. 2005; (sous presse).
35. Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, von Titani K. Willebrand factor-cleaving protease and Upshaw-Schulman syndrome. Int J Hematol 2002; 75: 25-34.
36. Schneippenheim R, Budde U, Hassenpflug W, Obser T. Severe ADAMTS-13 deficiency in childhood. Semin Hematol 2004; 41: 83-9.
37. Kokame K, Miyata T. Genetic defects leading to hereditary thrombotic thrombocytopenic purpura. Semin Hematol 2004; 41: 34-40.
38. Andreoli SP. The pathophysiology of the hemolytic uremic syndrome. Nephrol Hypertens 1999; 8: 459-64.
39. Neuhaus TJ, Calonder S, Leumann EP. Heterogeneity of atypical haemolytic uraemic syndromes. Arch Dis Child 1997; 76: 518-21.
40. Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Fridman WH, Weiss L. Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 2004; 15: 787-95.
41. Haberle J, Kehrel B, Ritter J, Jurgens H, Lammle B, Furlan M. New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review. Eur J Pediatr 1999; 158: 883-7.
42. Te Loo DMWM, Levtchenko E, Furlan M, Roosendaal GPM, van den Heuvel LPWJ. Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency. Pediatr Nephrol 2000; 14: 762-5.
43. Allford SL, Harrison P, Lawrie AS, Liesner R, MacKie IJ, Machin SJ. Von Willebrand-factor cleaving protease activity in congenital thrombotic thrombocytopenic purpura. Br J Haematol 2000; 111: 1215-22.
44. Barbot J, Costa E, Guerra M, Barreirinho MS, Isvarlal P, Robles R, Gerritsen HE, Lämmle B, Furlan M. 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.
45. Schiff DE, Roberts WD, Willert J, Tsai HM. Thrombocytopenia and severe hyperbilirubinemia in the neonatal period secondary to congenital thrombotic thrombocytopenic purpura and ADAMTS13 deficiency. J Pediatr Hematol Oncol 2004; 26: 535-8.
46. Veyradier A, Obert B, Haddad E, Cloarec S, Nivet H, Foulard M, Lesure F, Lahkadari M, Meyer D, Girma JP, Loirat C. Severe deficiency of specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. J Pediatr 2003; 142: 310-7.
47. Hunt BJ, Lämmle B, Nevard CHF, Haycock GB, Furlan M. Von Willebrand factor-cleaving protease in childhood diarrhoea-associated haemolytic uraemic syndrome. Thromb Haemost 2001; 85: 975-98.
48. Tsaï HM, Chandler WL, Sarode R, Hoffman R, Jelacic S, Habeeb RL, Watkins SL, Wong CS, Williams GD, Tarr PI. Von Willebrand factor and von Willebrand factor-cleaving protease activity in Escherichia Coli O157:H7-associated hemolytic uremic syndrome. Pediatr Res 2001; 49: 653-9.
49. Robson WL, Tsai HM. Thrombotic thrombocytopenic purpura attributable to von Willebrand factor-cleaving protease inhibitor in an 8-year-old boy. Pediatrics 2002; 109: 322-5.
50. Ashida A, Nakamura H, Yoden A, Tamai H, Ishizashi H, Yogi H, Matsumoto M, Fujimura Y. Successful treatment of a young infant who developed high-titer inhibitor against VWF-cleaving protease (ADAMTS-13): important discrimination from Upshaw-Schulman syndrome. Am J Hematol 2002; 71: 318-22.
51. Motto D, Levy G, McBee B, Tsai HM, Ginsburg D. ADAMTS13 mutations identified in familial TTP patients result in loss of von Willebrand factor-cleaving protease activity. Blood 2002; 100: 15a.
52. Savasan S, Lee SK, Tsaï HM. ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood 2003; 101: 4449-51.
53. Snider CE, Moore JC, Warkentin TE, Finch CN, Hayward CP, Kelton JG. Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura. Am J Hematol 2004; 77: 387-90.
54. Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. Blood 2004; 103: 627-9.
55. Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kwano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS 13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902-7.
56. Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, Iwai A, Ito E, Tsuji Y, Takeda-Shitaka M, Iwadate M, Umeyama H, Yagi H, Ishizashi H, Banno F, Nakagaki T, Miyata T, Fujimura Y. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood 2004; 103: 1305-10.
57. Uchida T, Wada H, Mizutani M, Iwashita H, Ishihara H, Shibano T, Suzuki M, Matsubara Y, Soejima K, Matsumoto M, Fujimura Y, Ikeda Y, Muruta M. Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood 2004; 104: 2081-3.
58. Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F. Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma. Acta Paediatr 2002; 91: 1056-9.
59. Antoine G, Zimmermann K, Plaimauer B, Grillowitzer M, Studt JD, Lämmle B, Scheiflinger F. 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.
60. Schneppenheim R, Budde U, Oyen E, Angerhaus D, Aumann V, Drewke E, Hassenpflug WA, Haberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel DE, Obser T, Santer R, Sykora KW. Von Willebrand factor-cleaving protease and ADAMTS 13 mutations in childhood TTP. Blood 2003; 101: 1845-50.
61. Assink K, Schiphorst R, Allford S, Karpman D, Etzioni A, Brichard B, van de Kar N, Monnens L, van den Heuvel L. Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. Kidney Int 2003; 63: 1995-9.
62. Bestetti G, Stellari A, Lattuada A, Corbellino M, Parravicini C, Calzarossa C, Cenzuales S, Moroni M, Galli M, Rossi E. ADAMTS13 genotype and VWF protease activity in an Italian family with TTP. Tnromb Haemost 2003; 90: 955-6.
63. Veyradier A, Lavergne JM, Ribba AS, Obert B, Loirat C, Meyer D, Girma JP. Ten candidate ADAMTS13 mutations in six French families with congenital thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost 2004; 2: 424-9.
64. Licht C, Stapenhorst L, Simon T, Budde U, Schneppenheim R, Hoppe B. Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS). Kidney Int 2004; 66: 955-8.
65. Studt JD, Hovinga JA, Antoine G, Hermann M, Rieger M, Scheiflinger F, Lammle B. Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS13 inhibitor: in vitro inhibition of ADAMTS13 activity by hemoglobin. Blood 2005; 105: 542-4.
66. Motto DG, Chauhan AK, Zhu G, Homeister J, Lamb CB, Desch KC, Zhang W, Tsai HM, Wagner DD, Ginsburg D. Shingatoxin triggers thrombic thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. J Clin Invest 2005; 115: 2752-61.
67. Motto D, Zhang W, Zhu G, Homeister J, Tdai HM, Ginsburg D. Additional environmental and/or genetic factors are required to trigger TTP in ADAMTS13-deficient mice. Blood 2004; 104: 77a.
68. Pimanda J, Hogg P. Control of von Willebrand factor multimer size and implications for disease. Blood Rev 2002; 16: 185-92.
69. Deschênes G, Veyradier A, Cloarec S, Benoit S, Desbois I, Gruel Y, Nivet H. Plasma therapy in von Willebrand factor protease deficiency. Pediatr Nephrol 2002; 17: 867-70.
70. Apte SS. À disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. Int J Biochem Cell Biol 2004; 36: 981-5.
71. Dragoneau N, Benoist-Lasselin C, Huber C, Faine L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004; 75: 801-6.
72. Plaimauer B, Schleifinger F. Expression and characterization of recombinant human ADAMTS-13. Semin Hematol 2004; 41: 24-33.