Inherited Bleeding Disorders in Women 2e

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 References 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 References 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 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 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 References 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 References 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 References 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 10.10 Summary 164 References 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 References 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 References 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 References 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 References 232 Index 235