Platelet-type von Willebrand Disease

Jonathan L Miller

doi:10.1055/s-0038-1650385

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1996; 75(06): 865-869
DOI: 10.1055/s-0038-1650385

Review Article

Schattauer GmbH Stuttgart

Platelet-type von Willebrand Disease

Jonathan L Miller

The Department of Pathology, SUNY Health Science Center at Syracuse, Syracuse, NY, USA

› Institutsangaben

Abstract

als PDF herunterladen

PDF (314 kb)

Referenzen

References
1 Miller JL, Castella A. Platelet-type von Willebrand’s disease: Characterization of a new bleeding disorder. Blood 1982; 60: 790-794
2 Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girina JP, Vicic WJ, Rogers J. Pseudo von Willebrand’s disease: An intrinsic platelet defect with aggregation by unmodified human factor VUI/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. N Engl J Med 1982; 306: 326-362
3 Takahashi H. Studies on the pathophysiology and treatment of von Willebrand’s disease. IV. Mechanism of increased ristocetin-induced platelet aggregation in von Willebrand’s disease. Thromb Res 1980; 19: 857-867
4 Castella A, Miller JL, Neuberg RW, Gawryl MS, Hoyer LW. Development of an inhibitor specific to factor VIII: coagulant activity in a patient with platelet-type von Willebrand’s disease. Am J Clin Pathol 1983; 80: 745-749
5 Takahashi H, Handa M, Watanabe K, Ando Y, Nagayama R, Hattori A, Shibata A, Federici AB, Ruggeri ZM, Zimmerman TS. Further characterization of platelet-type von Willebrand’s disease in Japan. Blood 1984; 64: 1254-1262
6 Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease. N Engl J Med 1980; 302: 1047-1051
7 Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VUI/von Willebrand factor. Blood 1981; 57: 1140-1143
8 Miller JL, Kupinski JM, Castella A, Ruggeri ZM. von Willebrand factor binds to platelets and induces aggregation in platelet-type but not type IIB von Willebrand disease. J Clin Invest 1983; 72: 1532-1542
9 Scott JP, Montgomery RR. The rapid differentiation of type IIb von Willebrand’s disease from platelet-type (pseudo-) von Willebrand’s disease by the “neutral” monoclonal antibody binding assay. Am J Clin Pathol 1991; 96: 723-728
10 Miller JL, Ruggeri ZM, Lyle VA. Unique interactions of asialo von Willebrand factor with platelets in platelet-type von Willebrand disease. Blood 1987; 70: 1804-1819
11 De Marco L, Shapiro SS. Properties of human asialo-factor VIII. A ristocetin-independent platelet-aggregating agent. J Clin Invest 1981; 68: 321-328
12 Miller JL. Sorting out heightened interactions between platelets and von Willebrand factor: “IIB or not IIB?” is becoming an increasingly answerable question in the molecular era. Am J Clin Pathol 1991; 96: 681-683
13 Bray PF. Inherited diseases of platelet glycoproteins: Considerations for rapid molecular characterization. Thromb Haemost 1994; 72: 492-502
14 Miller JL, Boselli BD, Kupinski JM. In vivo interaction of von Willebrand factor with platelets following cryoprecipitate transfusion in platelet-type von Willebrand’s disease. Blood 1984; 63: 226-230
15 Takahashi H, Ikeda K, Abe S, Wada K, Nagayama R, Tatewaki W, Hama-no M, Takizawa S, Shibata A. Platelet aggregation induced by cryoprecipitate infusion in platelet-type von Willebrand’s disease. Thromb Res 1987; 46: 255-262
16 Takahashi H, Tatewaki W, Nagayama R, Hanano M, Tamura M, Yama-guchi T, Takizawa S, Wada K, Shibata A. Heat-treated factor VUI/von Willebrand factor concentrate in platelet-type von Willebrand’s disease. Haemostasis 1987; 17: 353-360
17 Miller JL, Williams WJ, Zamkoff KW, Yuan HA. Low-dose cryoprecipitate transfusion therapy in platelet-type von Willebrand’s disease. Clin Res 1984; 32: 316
18 Takahashi H. Replacement therapy in platelet-type von Willebrand disease. Am J Hematol 1985; 18: 351-362
19 Takahashi H, Nagayama R, Hattori A, Shibata A. Platelet aggregation induced by DDAVP in platelet-type von Willebrand’s disease. NEJM 1984; 310: 722-723
20 Kobrinsky NL, Israels ED, Bickis MG. Synergistic shortening of the bleeding time by desmopressin and ethamsylate in patients with various constitutional bleeding disorders. Am J Pediatr Hematol Oncol 1991; 13: 437-441
21 Moroi M, Jung SM, Yoshida N. Genetic polymorphism of platelet glycoprotein Ib. Blood 1986; 64: 622-629
22 Jung SM, Plow EF, Moroi M. Polymorphism of platelet glycoprotein Ib in the United States. Thromb Res 1986; 42: 83-90
23 Bryckaert MC, Pietu G, Ruan C, Tobelem G, Girma JP, Meyer D, Larrieu MJ, Caen JP. Abnormality of glycoprotein lb in two cases of “pseudo” von Willebrand’s disease. J Lab Clin Med 1985; 106: 393-400
24 Miller JL, Hustad KO, Kupinski JM, Lyle V, Kunicki TJ. Increased platelet sensitivity to ristocetin is predicted by the binding characteristics of a GPIb/IX determinant. Br J Haematol 1990; 74: 313-319
25 Ward CM, Bemdt MC. Epitope and functional characterization of the CD42 (gpIb/IX) mAb panel. In: Leucocyte Typing V: White Cell Differentiation Antigens Schlossman S. ed New York: Oxford University Press; 1995: 1336-1337
26 Chambers M, Weisman S, Li CQ, Lopez JA. Mapping of mAb to CD42a and CD42b and of unassigned mAb in transfected cell lines expressing the gpIb/IX complex. In: Leucocyte Typing V: White Cell Differentiation Antigens Schlossman S. ed New York: Oxford University Press; 1995: 1343-1345
27 Lopez JA, Chung DW, Fujikawa K, Hagen FS, Papayannopoulou T, Roth GJ. Cloning of the a chain of human platelet glycoprotein Ib: A transmembrane protein with homology to leucine-rich α₂-glycoprotein. Proc Natl Acad Sci USA 1987; 84: 5615-5619
28 Petersen E, Wyler B, Morton C, Clevers H, Bruns G, Handin RI. The gene encoding GPIba is intron-depleted and is only expressed in cells of mega-karyocytic lineage. Blood 1988; 72: 335
29 Wenger RH, Kieffer N, Wicki AN, Clemetson KJ. Structure of the human blood platelet membrane glycoprotein Iba gene. Biochem Biophys Res Comm 1988; 156: 389-395
30 Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding platelet glycoprotein Iba in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 1991; 88: 47615
31 Murata M, Russell SR, Ruggeri ZM, Ware J. Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. J Clin Invest 1993; 91: 2133-2137
32 Russell SD, Roth GJ. Pseudo-von Willebrand disease: A mutation in the platelet glycoprotein Iba gene associated with a hyperactive surface receptor. Blood 1993; 81: 1787-1791
33 Takahashi H, Murata M, Moriki T, Anbo H, Furukawa T, Nikkuni K, Shibata A, Handa M, Kawai Y, Watanabe K, Ikeda Y. Substitution of Val for Met at residue 239 of platelet glycoprotein Iba in Japanese patients with platelet-type von Willebrand disease. Blood 1995; 85: 727-733
34 Pincus MR, Dykes DC, Carty RP, Miller JL. Conformational energy analysis of the substitution of Val for Gly 233 in a functional region of platelet GPIba in platelet-type von Willebrand disease. Biochim Biophys Acta 1991; 1097: 133-139
35 Pincus MR, Carty RP, Miller JL. Structural implications of the substitution of Val for Met at residue 239 in the alpha chain of human platelet glycoprotein Ib. J Protein Chem 1994; 13: 629-634
36 Ginsburg D, Sadler JE. von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1993; 69: 177-184
37 Hess D, Schaller J, Rickli EE, Clemetson KJ. Identification of the disulphide bonds in human platelet glycocalicin. Eur J Biochem 1991; 199: 389-393
38 Roth GJ. Developing relationships: Arterial platelet adhesion, glycoprotein Ib, and Leucine-rich glycoproteins. Blood 1991; 77: 05-19
39 Murata M, Fukuyama M, Satoh K, Fujimura Y, Yoshioka A, Takahashi H, Handa M, Kawai Y, Watanabe K, Ikeda Y. Low shear stress can initiate von Willebrand factor-dependent platelet aggregation in patients with type IIB and platelet-type von Willebrand disease. J Clin Invest 1993; 92: 1555-1558
40 Vicente V, Houghten RA, Ruggeri ZM. Identification of a site in the a chain of platelet glycoprotein lb that participates in von Willebrand factor binding. J Biol Chem 1990; 265: 274-280
41 Katagiri Y, Hayashi Y, Yamamoto K, Tanoue K, Kosaki G, Yamazaki H. Localization of von Willebrand factor and thrombin-interactive domains on human platelet glycoprotein Ib. Thromb Haemost 1990; 63: 122-126
42 Miller J, Lyle V. Mimotope/antimimotope probing of structural relationships in platelet glycoprotein Iba. Proc Natl Acad Sci USA 1996; 93: 3566-3569