Von Willebrand Disease: Basic and Clinical Aspects PDF
Preview Von Willebrand Disease: Basic and Clinical Aspects
Von Willebrand Disease Von Willebrand Disease Basic and Clinical Aspects Edited by Augusto B. Federici MD Associate Professor of Hematology Division of Hematology and Transfusion Medicine L. Sacco University Hospital Department of Internal Medicine University of Milan Milan, Italy Christine A. Lee MA, MD, DSc (Med), FRCP, FRCPath, FRCOGad eundem Emeritus Professor of Haemophilia University of London London, UK Erik E. Berntorp MD, PhD Professor of Hemophilia Malmö Centre for Thrombosis and Haemostasis Lund University Skåne University Hospital Malmö, Sweden David Lillicrap MD Professor Department of Pathology and Molecular Medicine Richardson Laboratory Queen’s University Kingston, ON, Canada Robert R. Montgomery MD Professor of Pediatric Hematology Department of Pediatrics Medical College of Wisconsin; Senior Investigator Blood Research Institute Blood Center of Wisconsin Milwaukee, WI, USA A John Wiley & Sons, Ltd., Publication This edition fi rst published 2011, © 2011 by Blackwell Publishing Ltd Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing program has been merged with Wiley’s global Scientifi c, Technical and Medical business to form Wiley-Blackwell. 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The fact that an organization or Website is referred to in this work as a citation and/or a potential source of further information does not mean that the author or the publisher endorses the information the organization or Website may provide or recommendations it may make. Further, readers should be aware that Internet Websites listed in this work may have changed or disappeared between when this work was written and when it is read. No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom. Library of Congress Cataloging-in-Publication Data Von Willebrand disease : basic and clinical aspects / edited by Augusto B. Federici ... [et al.]. p. ; cm. Includes bibliographical references and index. ISBN 978-1-4051-9512-6 (hardcover : alk. paper) 1. Von Willebrand disease. I. Federici, Augusto B. [DNLM:1. von Willebrand Diseases. WH 312] RC647.V65V66 2011 616.1'57–dc22 2010036377 A catalogue record for this book is available from the British Library. This book is published in the following electronic formats: ePDF 9781444329933; Wiley Online Library 9781444329926; ePub 9781444329940 Set in 9/11.5 pt Sabon by Toppan Best-set Premedia Limited 01 2011 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 v CONTENTS 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 VandenDriessche Index, 245 vi Contributors Thomas C. Abshire MD Ulrich Budde MD Senior Vice President Director Medical Services and the Medical Science Institute; Department of Hemostaseology Chief Medical Offi cer Medilys Laborgesellschaft mbH BloodCenter of Wisconsin c/o Asklepios Klinik Altona Milwaukee, WI, USA Hamburg, Germany L uciano Baronciani PhD Giancarlo Castaman MD Hospital Scientist Consultant Haematologist Angelo Bianchi Bonomi Haemophilia and Department of Cell Therapy and Hematology Thrombosis Centre Hemophilia and Thrombosis Center Department of Medicine and Medical Specialities San Bortolo Hospital IRCCS Maggiore Policlinico Hospital Vicenza, Italy Mangiagalli and Regina Elena Foundation and University of Milan Olivier D. Christophe PhD Milan, Italy Senior Researcher INSERM Unit 770 Jennifer Barr BS Le Kremlin- Bic ê tre, France Department of Anatomy and Cell Biology University of Iowa Carver College of Medicine M arinee K.L. Chuah PhD Iowa City, IA, USA Professor Flanders Institute for Biotechnology (VIB) Javier Batlle MD Vesalius Research Center Chairman Servicio de Hematologí a y Hemoterapia. University of Leuven INIBIC. C. Hospitalario Universitario A Coruñ a; Leuven; Associate Professor of Department of Medicine Faculty of Medicine and Pharmacy School of Medicine University Hospital Campus Jette University of Santiago de Compostela Free University of Brussels (VUB) A Coru ñ a, Spain Brussels, Belgium Margareta Blomb ä ck MD PhD Cecile V. Denis PhD Professor Emeritus Director of Research Department of Molecular Medicine and Surgery INSERM Unit 770 Division of Clinical Chemistry and Blood Le Kremlin- Bic ê tre, France Coagulation Research The Karolinska Institute Karolinska University Hospital Stockholm, Sweden vii CONTRIBUTORS Jorge Di Paola MD S andra L. Haberichter PhD Associate Professor of Pediatrics and Genetics Associate Professor Postle Family Chair in Pediatric Cancer and Blood Department of Pediatrics – Hematology/Oncology Disorders Medical College of Wisconsin University of Colorado Denver School of Medicine Milwaukee, WI, USA The Children’ s Hospital Aurora, CO, USA Paula D. James MD, FRCPC Associate Professor, Hematologist Jeroen C.J. Eikenboom MD, PhD Queen ’ s University Associate Professor Kingston, ON, Canada Department of Thrombosis and Hemostasis Leiden University Medical Center R ezan A. Kadir MD, FRCS (ed), MRCOG, MD Leiden, the Netherlands Consultant Obstetrician and Gynaecologist The Royal Free Hospital Emmanuel J. Favaloro PhD London, UK Senior Hospital Scientist Department of Haematology P eter A. Kouides MD Institute of Clinical Pathology and Medical Medical and Research Director Research (ICPMR) Mary M Gooley Hemophilia Center Westmead Hospital Rochester General Hospital Westmead, NSW, Australia Rochester, NY, USA Massimo Franchini MD Peter J. Lenting PhD Head Director of Research Immunohematology and Transfusion Center INSERM Unit 770 Department of Pathology and Laboratory Medicine Le Kremlin- Bic ê tre, France University Hospital of Parma Italy S tefan Lethagen MD, PhD Director of Copenhagen Haemophilia Centre Edith Fressinaud MD, PhD Thrombosis and Haemostasis Unit Consultant Haematologist Department of Haematology Centre National de Ré f é rence de la Maladie de Copenhagen University Hospital Willebrand Copenhagen, Denmark; Service d’ H é matologie biologique International Medical Director H ô pital Antoine B é cl è re Director of Medical & Science Haemostasis Clamart, France Department Global Development A nne Goodeve BSc, PhD Novo Nordisk Reader and Head, Haemostasis Research Group S ø borg, Denmark Department of Cardiovascular Science Faculty of Medicine, Dentistry and Health Mar í a Fernanda Ló pez - Fern á ndez MD University of Sheffi eld; Head, Hemostasis and Thrombosis Principal Clinical Scientist Servicio de Hematologí a y Hemoterapia Sheffi eld Diagnostic Genetics Service Complexo Hospitalario Universitario de A Coruñ a Sheffi eld Children’ s NHS Foundation Trust A Coru ñ a, Spain Sheffi eld, UK viii CONTRIBUTORS P ier Mannuccio Mannucci MD Jacob H. Rand Professor of Medicine Hematology Laboratory Angelo Bianchi Bonomi Haemophilia and Department of Pathology Thrombosis Centre Montefi ore Center University of Milan and IRCCS Maggiore Hospital Bronx, NY, USA Milan, Italy F rancesco Rodeghiero MD Claudine Mazurier PhD Director Head of Analytical Department, Preclinical Department of Cell Therapy and Hematology Development San Bortolo Hospital Laboratoire Franç ais du Fractionnement et des Vicenza, Italy Biotechnologies Lille, France R einhard Schneppenheim MD, PhD Director D ominique Meyer MD Department of Pediatric Hematology and Oncology Professor of Haematology University Medical Center Hamburg- Eppendorf Centre National de Ré f é rence de la Maladie de Hamburg, Germany Willebrand; University Paris- Sud Alberto Tosetto MD France Senior Consultant Department of Hematology D avid Motto MD, PhD San Bortolo Hospital Assistant Professor Vicenza, Italy Departments of Internal Medicine and Pediatrics University of Iowa Carver College of Medicine Thierry VandenDriessche PhD Iowa City, IA, USA Group Leader Flanders Institute for Biotechnology (VIB); I an Peake BSc, PhD Vesalius Research Center Sir Edward Mellanby Professor of Molecular University of Leuven Medicine Leuven; Department of Cardiovascular Science Faculty of Medicine and Pharmacy University of Sheffi eld Medical School University Hospital Campus Jette Sheffi eld, UK Free University of Brussels (VUB) Brussels, Belgium A lmudena P é rez - Rodr í guez PhD Post - doctoral Investigator Servicio de Hematologí a y Hemoterapia— INIBIC Complexo Hospitalario Universitario de A Coruñ a A Coru ñ a, Spain I nge Petrus PhD Flanders Institute for Biotechnology (VIB) Vesalius Research Center University of Leuven Leuven, Belgium ix Foreword I feel very honored to have been asked to write the bleeding without success but, when treated with frac- foreword to this book on von Willebrand disease tion I - 0, the bleeding stopped. It is possible that the (VWD). I am now the oldest living scientist to have platelet treatment was the reason why she later devel- experience in this area, and thus it may be of interest oped antibodies to VWD. At that time there were no for readers to learn about some early experiences that oral contraceptives, which have revolutionized the I shared with the late Dr. Inga- Marie Nilsson, which management of menorrhagia in patients with VWD. I have described below. Since I started working with In this particular patient, we used testosterone and VWD in the mid - 1950s, there has been enormous later hysterectomy (under prophylaxis of fraction I - 0) progress in the management of the disease in terms to deal with the menstrual bleedings. of knowledge about mechanisms, treatment, and To persuade doctors that a patient had to be treated underlying genetics. We have been able to follow this with a concentrate was a diffi cult task. I remember development in Stockholm because the hemophilia the case of a 13 - year - old boy who developed severe center here is currently responsible for the treatment head trauma as a result of falling from a bicycle. of 40 patients with type 3 VWD (i.e., the most severe Despite the fact that the boy had a bleeding chart form). saying that he should be treated immediately in the In the 1950s there were only a few known cases of event of a trauma and the fact that I informed the the disease — which was mostly called “ pseudohemo- doctor that the usual signs do not develop in bleeders philia ” — in addition to those cases known in the immediately but sometimes several days later, the Å land Islands, where the disease was fi rst identifi ed doctor refused to treat the boy with concentrates and by Erik von Willebrand. This was probably because he died from severe brain hemorrhage. most patients with type 3 VWD died young, either in In 1958 we started prophylactic treatment in utero or, if the patient was female and survived until patients with hemophilia to avoid joint destruction. puberty, as a result of menstrual bleeding. I remember However, it was not until many years later that we some touching letters written at the end of the 19th realized that patients with type 3 VWD also required century from a businessman to his wife, who was prophylaxis; therefore, some of them developed joint mostly bedridden owing to menstrual bleedings. This disabilities. We also did not know that the concen- woman was an ancestor of a young woman from trates with which we treated our patients could Stockholm with type 3 VWD, who is currently living contain hepatitis C virus, which has led to the prema- a normal family life thanks to therapy in early child- ture death of some patients. hood with the Swedish fraction I- 0 (which contained This book has become a very comprehensive and von Willebrand factor [VWF], factor VIII [FVIII], and useful work into which many of the authors have put fi brinogen) and later with commercial VWF- c ontaining great efforts to make their chapters not only informa- concentrates. tive but also easy to understand. Progress, diffi culties, When taking a bleeding history for a female in the and alternative ways to diagnose phenotypes and gen- 1950s, it was useful to ask whether she had been otypes are described. Molecular diagnosis of type 1, scolded in school for dropping blood onto her handi- type 2 and its subgroups, and type 3 VWD are pre- work after pricking her fi nger with a sewing needle. sented. In addition, a chapter on gene therapy looking We learned that it was useful to analyze blood groups into the future is stimulating to read. Furthermore, in family investigations, as we found that a healthy many authors have endeavored to include all relevant child who showed no sign of having inherited the literature, which is very useful for students. disease did not share the same father as the sick A problem with regard to historical aspects is that sibling. We made several mistakes— one girl was the nomenclature has changed from FVIII - related transfused with platelets during a severe menstrual antigen to VWF antigen. Therefore, some of the early xi FOREWORD fi ndings with regard to the level of VWF in patients carriers of VWD only had a phenotypically mild with blood group O or A have not been observed. bleeding disorder and often, but not always, the Nevertheless, the topic of how to proceed in diagnosis common analyses of VWD indicated a mild disorder. when the patient has blood group O or A has been However, we recorded the usefulness of an increased thoroughly discussed. I have the impression that there ratio of FVIII/VWF:Ag for the diagnosis of what we still are problems with regard to diagnosis of the called type 1 VWD in these families. phenotypes, particularly with regard to the diagnosis It must have been an enormous task for the editors of type 1 VWD, even if preanalytic problems are to encourage all the authors to write, although pos- taken into account, for example the quality of meth- sibly some welcomed the opportunity to put together odology and the importance of telling the patient to their experience in a comprehensive chapter. The rest and not to run or be stressed, etc, before blood efforts on trying to collate experience in multicenter sampling. I made a serious mistake once when analyz- studies on prophylaxis and diagnostic scores is very ing changes in VWF during the menstrual cycle — the valuable and, of course, needs to be supported in volunteers were not well informed about resting order to solve the many diffi culties that remain in the before sampling and we therefore misinterpreted the diagnosis and management of VWD. results; there are not such great variations in FVIII and VWF during the menstrual cycle as initially Margareta Blombä ck suggested. Professor Emeritus When investigating families with type 3 VWD, we Karolinska Institutet found that the parents and siblings who were genetic Sweden xii
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