This valuable book describes the important and complex role of von Willebrand factor in hemostasis and thrombosis. In addition to the current understanding of its molecular biology, this book gives particular focus to the association between genetic variants of von Willebrand factor and different von Willebrand disease phenotypes. It also reviews the important area of the obstetric and gynecological manifestations of von Willebrand disease, as well as the treatment of acute bleeding.
Written by an international team of contributors it describes the progress in, and difficulties of diagnosing phenotypes and genotypes. Molecular diagnosis of type 1, type 2 and its subgroups, and type 3 von Willebrand disease are presented as well as discussion of the potential future role of gene therapy.
Von Willebrand Disease: Basic and Clinical Aspects is a valuable resource for hematologists in practice and in training, and specialists in thrombosis and hemostasis.
Table of Contents
Contributors vii
Foreword xi
Preface xiii
1 Historical perspective on von Willebrand disease 1
Erik Berntorp and Margareta Blombäck
2 Biosynthesis and organization of von Willebrand factor 7
Sandra L. Haberichter
3 von Willebrand factor structure and function 30
Robert R. Montgomery and Sandra L. Haberichter
4 Modulation of von Willebrand factor by ADAMTS13 49
Jennifer Barr and David Motto
5 Animal models in von Willebrand disease 63
Cécile V. Denis, Olivier D. Christophe and Peter J. Lenting
6 Classifi cation of von Willebrand disease 74
Javier Batlle, Almudena Pérez-Rodríguez and María Fernanda López-Fernández
7 The epidemiology of von Willebrand disease 86
Giancarlo Castaman and Francesco Rodeghiero
8 Clinical aspects of von Willebrand disease: bleeding history 91
Paula D. James and Alberto Tosetto
9 Laboratory diagnosis of von Willebrand disease: the phenotype 100
Ulrich Budde and Emmanuel J. Favaloro
10 Molecular diagnosis of von Willebrand disease: the genotype 114
Anne C. Goodeve and Reinhard Schneppenheim
11 Clinical, laboratory, and molecular markers of type 1 von Willebrand disease 127
David Lillicrap, Francesco Rodeghiero, and Ian Peake
12 Clinical, laboratory, and molecular markers of type 2 von Willebrand disease 137
Dominique Meyer, Edith Fressinaud, and Claudine Mazurier
13 Clinical, laboratory, and molecular markers of type 3 von Willebrand disease 148
Luciano Baronciani, Augusto B. Federici, and Jeroen C.J. Eikenboom
14 Pediatric aspects of von Willebrand disease 166
Jorge Di Paola and Thomas Abshire
15 Women with von Willebrand disease 174
Christine A. Lee, Rezan A. Kadir, and Peter A. Kouides
16 On the use of desmopressin in von Willebrand disease 186
Stefan Lethagen, Augusto B. Federici, and Giancarlo Castaman
17 The use of plasma-derived concentrates 200
Pier Mannuccio Mannucci and Massimo Franchini
18 Prophylaxis in von Willebrand disease 207
Erik Berntorp
19 Pathophysiology, epidemiology, diagnosis, and treatment of acquired von Willebrand syndrome 214
Ulrich Budde, Augusto B. Federici and Jacob H. Rand
20 Gene therapy for von Willebrand disease 231
Marinee K.L. Chuah, Inge Petrus, and Thierry Vanden Driessche
Index 245
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