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Von Willebrand Disease: Basic and Clinical Aspects

ISBN: 978-1-4051-9512-6
268 pages
April 2011, Wiley-Blackwell
Von Willebrand Disease: Basic and Clinical Aspects (1405195126) cover image
Von Willebrand Disease: Basic and Clinical Aspects provides an insight into all aspects of the condition. Since its discovery, von Willebrand disease has been extensively studied and the causative factor deficiency, the understanding of the condition and its treatment has greatly improved. This book summarizes recent research and will help to optimize the management of patients with von Willebrand disease.

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.

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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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Augusto B. Federici, University of Milan, Milan, Italy

Christine A. Lee, Oxford Haemophilia & Thrombosis Centre, Oxford, UK

Erik E. Berntorp, Lund University, Malmö, Sweden

David Lillicrap, Queen’s University, Kingston, ON, Canada

Robert R. Montgomery, Medical College of Wisconsin; Milwaukee, WI, USA

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"This book certainly helped to enhance my knowledge about von Willebrand disease and even prompted me to present a review of the disease to my colleagues. It is excellently written, appeals to a broad category of readers, and exceeds its stated objectives. I would definitely recommend the book to colleagues." (Doody's, 23 September 2011)

 

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