Inherited bleeding disorders in women

251 Pages·2019·4.18 MB·English

by  James, Paula D., Kadir, Rezan A., Christine A

Inherited Bleeding Disorders in Women
Chapter No.: 1 Title Name: <TITLENAME> ffirs.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:47:59 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number: i
Inherited Bleeding Disorders in Women
Second Edition
Edited by
Rezan A. Kadir MB ChB MRCOG FRCS(Ed) MD
Professor, Department of Obstetrics and Gynaecology and Katharine Dormandy
Haemophilia and Thrombosis Centre, The Royal Free Foundation Hospital, London, UK
and
Institute for Women’s Health, University College London, London, UK
Paula D. James MD FRCPC
Professor, Department of Medicine
Queen’s University, Kingston, Canada
Christine A. Lee MA MD DSc FRCP FRCPath FRCOG
Emeritus Professor of Haemophilia
University College London, London, UK
Chapter No.: 1 Title Name: <TITLENAME> ffirs.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:47:59 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number:
iii
This edition first published 2019
© 2019 John Wiley & Sons Ltd.
Edition History
Wiley‐Blackwell (1e, 2009)
All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any
means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by law. Advice on how to obtain permission to
reuse material from this title is available at http://www.wiley.com/go/permissions.
The right of Rezan A. Kadir, Paula D. James, and Christine A. Lee to be identified as the authors of the editorial material in this work
has been asserted in accordance with law.
Registered Office(s)
John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030, USA
John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK
Editorial Office
9600 Garsington Road, Oxford, OX4 2DQ, UK
For details of our global editorial offices, customer services, and more information about Wiley products visit us at www.wiley.com.
Wiley also publishes its books in a variety of electronic formats and by print‐on‐demand. Some content that appears in standard print
versions of this book may not be available in other formats.
Limit of Liability/Disclaimer of Warranty
The contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended
and should not be relied upon as recommending or promoting scientific method, diagnosis, or treatment by physicians for any
particular patient. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow
of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information
provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the
instructions or indication of usage and for added warnings and precautions. While the publisher and authors have used their best efforts
in preparing this work, they make no representations or warranties with respect to the accuracy or completeness of the contents of this
work and specifically disclaim all warranties, including without limitation any implied warranties of merchantability or fitness for a
particular purpose. No warranty may be created or extended by sales representatives, written sales materials or promotional statements
for this work. The fact that an organization, website, or product is referred to in this work as a citation and/or potential source of further
information does not mean that the publisher and authors endorse the information or services the organization, website, or product
may provide or recommendations it may make. This work is sold with the understanding that the publisher is not engaged in rendering
professional services. The advice and strategies contained herein may not be suitable for your situation. You should consult with a
specialist where appropriate. Further, readers should be aware that websites listed in this work may have changed or disappeared between
when this work was written and when it is read. Neither the publisher nor authors shall be liable for any loss of profit or any other
commercial damages, including but not limited to special, incidental, consequential, or other damages.
Library of Congress Cataloging‐in‐Publication Data
Names: Kadir, Rezan A., editor. | James, Paula D., editor. | Lee, Christine
A., editor. | Preceded by (work): Lee, Christine A. Inherited bleeding
disorders in women.
Title: Inherited bleeding disorders in women / edited by Rezan A. Kadir,
Paula D. James, Professor Christine A. Lee.
Description: Second edition. | Hoboken, NJ : Wiley-Blackwell, 2019. |
Preceded by Inherited bleeding disorders in women / Christine A. Lee,
Rezan A. Kadir, Peter A. Kouides. 2009. | Includes bibliographical
references and index. |
Identifiers: LCCN 2018032345 (print) | LCCN 2018033046 (ebook) | ISBN
9781119426127 (Adobe PDF) | ISBN 9781119426066 (ePub) | ISBN 9781119426028
(hardback)
Subjects: | MESH: Blood Coagulation Disorders, Inherited | Women’s Health
Classification: LCC RC647.C55 (ebook) | LCC RC647.C55 (print) | NLM WH 322 |
DDC 616.1/570082–dc23
LC record available at https://lccn.loc.gov/2018032345
Cover Design: Wiley
Cover Image: © Barbara Bruch
Set in 10/12pt WarnockPro by SPi Global, Chennai, India
10 9 8 7 6 5 4 3 2 1
Chapter No.: 1 Title Name: <TITLENAME> ffirs.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:47:59 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number:
iv
v
Contents
Preface to Second Edition ix
Preface to First Edition xi
List of Contributors xiii
1 Hematological Assessment of a Patient with an Inherited Bleeding Disorder 1
Sue Pavord and Henna Wong
1.1 Introduction 1
1.2 Normal Hemostasis 1
1.3 Defects of Hemostasis 5
1.4 Clinical Presentation of Bleeding 5
1.5 Diagnosis 6
1.6 Approach to a Female with a Bleeding History 6
1.7 Summary 10
R eferences 11
2 Bleeding Assessment Tools 13
Sarah H. O’Brien and Paula D. James
2.1 Introduction 13
2.2 Evolution of Vicenza‐Based Bleeding Assessment Tools 13
2.3 Women’s Studies Using Vincenza‐Based Bleeding Tools 22
2.4 Tools to Evaluate Menstrual Blood Loss 23
2.5 Young Women’s Hematology and Bleeding Assessment Tools 25
2.6 Clinical Utility of Bleeding Assessment Tools 25
2.7 Conclusion 26
R eferences 27
3 Physiology of Menstruation 29
Jane J. Reavey, Jacqueline A. Maybin, and Hilary O.D. Critchley
3.1 Introduction 29
3.2 Normal Menstruation 29
3.3 Neuroendocrine Hormones 30
3.4 Menarche 31
3.5 Ovarian Follicle Development and Endocrine Function 31
3.6 Endometrium 33
3.7 Secretory Phase 34
3.8 Menstruation 35
3.9 Control of Bleeding 37
Chapter No.: 1 Title Name: <TITLENAME> ftoc.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:17 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number: v
vi Contents
3.10 Endometrial Repair 38
3.11 Proliferative Phase 40
3.12 Summary 40
References 41
4 Gynecology 45
Joanna S. Davies and Rezan A. Kadir
4.1 Introduction 45
4.2 Heavy Menstrual Bleeding 48
4.3 Management of Acute Episodes of Heavy Menstrual Bleeding 58
4.4 Ovulation Bleeding 59
4.5 Endometriosis 59
4.6 Other Gynecological Conditions 60
4.7 Conclusion 61
References 61
5 Carriers of Hemophilia A and Hemophilia B 65
Roseline d’Oiron
5.1 Inheritance 65
5.2 Screening for the Genetic Status of Carriers of Hemophilia 65
5.3 Confusion Between Genetic and Coagulation Testing 66
5.4 When to Perform Genetic Testing 67
5.5 What Reasons might Contribute to Delayed Genetic Diagnosis of Carriership? 68
5.6 Bleeding Disorders in Carriers of Hemophilia 68
5.7 Quality of Life of Carriers of Hemophilia 73
5.8 Carriers of Hemophilia A and B and Pregnancy 73
5.9 How to Improve Care for Carriers of Hemophilia 77
References 79
6 Von Willebrand Disease 83
Carolyn M. Millar
6.1 Introduction 83
6.2 Structure and Function of Von Willebrand Factor 83
6.3 Von Willebrand Factor Levels and Prevalence of Von Willebrand Disease 84
6.4 VWF Levels, the Menstrual Cycle and Pregnancy 84
6.5 Von Willebrand Disease Classification and Inheritance 85
6.6 Clinical Presentation 87
6.7 Menorrhagia and Postpartum Hemorrhage 87
6.8 Diagnosis and Laboratory Testing 88
6.9 Management of Von Willebrand Disease 90
6.10 Management of Gynecological Bleeding 91
6.11 Obstetric Management of Von Willebrand Disease 92
6.12 Neonatal Management 94
6.13 Cases 94
References 96
7 Factor XI Deficiency 101
Bethan Myers and Rezan A. Kadir
7.1 Factor XI Structure and Function in Coagulation 101
Chapter No.: 1 Title Name: <TITLENAME> ftoc.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:17 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number:
vi
Contents vii
7.2 Incidence and Inheritance of Factor XI Deficiency 101
7.3 Bleeding Manifestations and Diagnosis of Factor XI Deficiency 103
7.4 Factor XI Deficiency and Gynecological Issues 103
7.5 Factor XI Deficiency and Pregnancy 105
7.6 Neuroaxial Analgesia and Anesthesia 108
7.7 Management of Postpartum Period 108
7.8 Treatment Options 109
7.9 Neonatal Bleeding 111
7.10 Conclusions and Recommendations 111
R eferences 112
8 Rare Bleeding Disorders 117
Danijela Mikovic, Marzia Menegatti, and Flora Peyvandi
8.1 Introduction 117
8.2 Clinical Symptoms 118
8.3 Gynecological and Obstetrical Manifestations in Women with Rare
Bleeding Disorders 119
8.4 Laboratory Diagnosis 122
8.5 Differential Diagnosis in Women with Menorrhagia 123
8.6 Treatment 124
8.7 Conclusion 128
R eferences 129
9 Inherited Platelet Defects 133
Mike Makris and Clare Samuelson
9.1 Introduction 133
9.2 Normal Platelet Function 133
9.3 Presentation 136
9.4 Investigation 137
9.5 Syndromic and Non‐Syndromic Inherited Platelet Disorders with Recognized
Causative Genes 143
9.6 Prenatal Diagnosis 143
9.7 Management 144
9.8 Future Directions 147
9.9 Case Histories 147
9.10 Conclusion 148
R eferences 149
10 Genetic and Laboratory Diagnosis 153
Anne C. Goodeve
10.1 Introduction 153
10.2 Phenotypic Analysis of Hemophilia A 154
10.3 Phenotypic Analysis of Hemophilia B 156
10.4 Phenotypic Analysis of von Willebrand Disease 157
10.5 Phenotypic Analysis of Inherited Bleeding Disorders 157
10.6 Genetic Analysis of Hemophilia A 160
10.7 Genetic Analysis of Hemophilia B 162
10.8 Genetic Analysis of von Willebrand Disease 163
10.9 Guidelines 164
Chapter No.: 1 Title Name: <TITLENAME> ftoc.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:17 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number:
vii
viii Contents
10.10 Summary 164
R eferences 164
11 Antenatal Diagnosis 167
Rezan A. Kadir, Irena Hudecova, and Claudia Chi
11.1 Introduction 167
11.2 Genetic Counseling 167
11.3 Prenatal Diagnosis 170
11.4 Prenatal Diagnosis of Hemophilia 177
11.5 Prenatal Diagnosis of von Willebrand Disease 180
11.6 Prenatal Diagnosis of Rare Bleeding Disorders 180
11.7 Preimplantation Genetic Diagnosis 181
11.8 Views about and Experiences of Prenatal Diagnosis of Women
in Families Affected with Inherited Bleeding Disorders 183
11.9 Termination of Pregnancy 185
R eferences 186
12 Analgesia and Anesthesia for Pregnant Women with Inherited
Bleeding Disorders 191
Anne‐Sophie Bouthors, Adrian England, and Rezan A. Kadir
12.1 Introduction 191
12.2 Non‐Pharmacological Methods 192
12.3 Pharmacological Methods 192
12.4 Conclusion 201
R eferences 202
13 The Newborn 205
Manuel Carcao and Vanessa Bouskill
13.1 Introduction 205
13.2 Developmental Hemostasis 205
13.3 Laboratory Hemostatic Evaluation of the Neonate 208
13.4 When to Suspect a Congenital Bleeding Disorder in a Newborn 209
13.5 Congenital Bleeding Disorders and Their Presentation in Newborns 213
13.6 Management of Bleeding in Neonates with Congenital Bleeding Disorders 218
13.7 Conclusion 221
R eferences 222
14 Women with Inherited Bleeding Disorders in Different Cultural Settings 225
Tahira Zafar, Jameela Sathar, Ali T. Taher, Fadi G. Mirza, and Christine A. Lee
14.1 Introduction 225
14.2 Pakistan 225
14.3 Malaysia 227
14.4 Lebanon 229
14.5 Discussion 231
R eferences 232
Index 235
Chapter No.: 1 Title Name: <TITLENAME> ftoc.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:17 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number:
viii
ix
Preface to Second Edition
It has been a privilege to edit the second bleeding assessment tools in the context of
e dition of Inherited Bleeding Disorders in women’s health, and a consideration of inher-
Women. ited bleeding disorders in different cultures
The first edition was published in 2009, and marriage within the family.
almost a decade ago, and during that time As before, the book is a collaboration,
there has been enormous endeavor in the w ritten by hematologists, obstetrician‐
research, management, and education of gynecologists, laboratory scientists, a nurse,
inherited bleeding disorders in women. and anesthetists who have expertise in the
This is reflected in the contents of this new field. Our aspiration continues to be the
edition. high quality of care for women with inher-
We have comprehensively updated the ited bleeding disorders worldwide and we
chapters covering the gynecological and hope this book will be useful for those pro-
obstetric issues for carriers of hemophilia, viding care and for the affected women
women with von Willebrand disease, rare themselves.
bleeding disorders, and inherited platelet dis-
orders to provide an evidence‐based, practi- January 2018 Rezan A. Kadir
cal approach to management. The enormous Paula D. James
developments in genetic analysis are included Christine A. Lee
in the chapters on laboratory and antenatal Cover image: ‘Menorrhagia Healing’
diagnosis. New chapters include the use of © Barbara Bruch 1991
Chapter No.: 1 Title Name: <TITLENAME> fpref01.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:26 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number: ix
xi
Preface to First Edition
In 1926, Erik von Willebrand described a large research of bleeding disorders in women
kindred from the Åland Islands, an archipel- continue as many challenges remain. The
ago in the Baltic Sea, many of whom had a main task now is to identify those women
bleeding disorder. The index case was a little who do not realize they may have a treatable
girl called Hjordis, who presented with severe condition. The patient advocacy organiza-
epistaxis and died at the onset of her fourth tions are crucial to this endeavor. There also
menstrual period. Her maternal grandmother remains the challenge of developing more
died from hemorrhage after childbirth in effective, tolerable, and widely available ther-
her  only pregnancy. Von Willebrand wrote apies for controlling menorrhagia and post-
that the condition was p articularly prevalent partum hemorrhage.
in women. This first description of von This book is written by hematologists,
Willebrand disease underlined the hemostatic obstetrician‐gynecologists, an anesthetist,
challenges of menstruation and childbirth for and those involved in patient advocacy. It
those women with an inherited bleeding covers the gynecological and obstetric issues
disorder. for carriers of hemophilia, women with von
Until recently, the predominant issue for Willebrand disease, rare bleeding disorders,
men with hemophilia has been safe and effec- and inherited platelet disorders. We hope
tive treatment, and most effort has been that this book is a modest step towards safe
directed to the resolution of transfusion‐ motherhood and provision of quality of care
transmitted disease. Furthermore, since for women with bleeding disorders world-
hemophilia is a sex‐linked disorder, there has wide and that all those providing care for
been a failure to recognize that women have these women, as well as the women them-
inherited bleeding disorders. Thus, the selves, will find it useful.
sub stantial morbidity caused in women with
inherited bleeding disorders has only recently December 2008 Christine A. Lee
been addressed in a comprehensive way. It is Rezan A. Kadir
important that collaboration in the care and Peter A. Kouides
Chapter No.: 1 Title Name: <TITLENAME> fpref02.indd
Comp. by: <USER> Date: 30 Oct 2018 Time: 07:48:35 AM Stage: <STAGE> WorkFlow:<WORKFLOW> Page Number: xi