Inherited Bleeding Disorders in Women

Name: Inherited Bleeding Disorders in Women
Brand: Wiley
Price: 179.99 EUR
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Rezan A. Kadir Paula D. James Christine A. Lee(Herausgeber*in)

Wiley (Verlag)

2. Auflage

Erschienen am 6. November 2018

264 Seiten

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978-1-119-42612-7 (ISBN)

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Inhalt

Cover
Title Page
Copyright
Contents
Preface to Second Edition
Preface to First Edition
List of Contributors
Chapter 1 Hematological Assessment of a Patient with an Inherited Bleeding Disorder
1.1 Introduction
1.2 Normal Hemostasis
1.2.1 Primary Hemostasis
1.2.2 Secondary Hemostasis
1.2.3 Fibrinolysis
1.2.4 Cell-Based Model of Hemostasis
1.3 Defects of Hemostasis
1.4 Clinical Presentation of Bleeding
1.5 Diagnosis
1.6 Approach to a Female with a Bleeding History
1.6.1 History
1.6.1.1 Past Medical History and Family History
1.6.1.2 Medication History
1.6.2 Physical Assessment
1.6.3 Investigations
1.6.3.1 Preanalytical Factors in Coagulation Testing
1.6.3.2 Specialized Tests of Coagulation
1.6.4 Interpretation of Hemostatic Assays
1.7 Summary
References
Chapter 2 Bleeding Assessment Tools
2.1 Introduction
2.2 Evolution of Vicenza-Based Bleeding Assessment Tools
2.2.1 Vicenza Bleeding Questionnaire and Score
2.2.2 Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD)
2.2.3 Condensed MCMDM-1VWD
2.2.4 Pediatric Bleeding Questionnaire (PBQ)
2.2.5 International Society on Thrombosis and Haemostasis Bleeding Assessment Tool
2.2.6 Self-BAT and Self-PBQ
2.3 Women's Studies Using Vincenza-Based Bleeding Tools
2.4 Tools to Evaluate Menstrual Blood Loss
2.5 Young Women's Hematology and Bleeding Assessment Tools
2.6 Clinical Utility of Bleeding Assessment Tools
2.7 Conclusion
References
Chapter 3 Physiology of Menstruation
3.1 Introduction
3.2 Normal Menstruation
3.3 Neuroendocrine Hormones
3.4 Menarche
3.5 Ovarian Follicle Development and Endocrine Function
3.6 Endometrium
3.7 Secretory Phase
3.8 Menstruation
3.9 Control of Bleeding
3.10 Endometrial Repair
3.11 Proliferative Phase
3.11.1 Endometrial Regeneration
3.12 Summary
References
Chapter 4 Gynecology
4.1 Introduction
4.1.1 Assessment of Menstrual Blood Loss and Diagnosis of Heavy Menstrual Bleeding
4.1.2 Heavy Menstrual Bleeding as a Predictor for Bleeding Disorders
4.1.3 Screening for Bleeding Disorders in Women with Heavy Menstrual Bleeding
4.1.4 Gynecological Problems in Women with Inherited Bleeding Disorders
4.2 Heavy Menstrual Bleeding
4.2.1 Investigations
4.2.2 Management of Heavy Menstrual Bleeding in Women with IBD
4.2.2.1 Medical Treatment of Heavy Menstrual Bleeding
4.2.2.1.1 Hormonal Treatments
4.2.2.1.2 Non-Hormonal Treatments
4.2.2.2 Surgical Interventions for Treatment of Heavy Menstrual Bleeding
4.2.2.2.1 Endometrial Ablation
4.2.2.2.2 Hysterectomy
4.3 Management of Acute Episodes of Heavy Menstrual Bleeding
4.4 Ovulation Bleeding
4.5 Endometriosis
4.6 Other Gynecological Conditions
4.7 Conclusion
References
Chapter 5 Carriers of Hemophilia A and Hemophilia B
5.1 Inheritance
5.2 Screening for the Genetic Status of Carriers of Hemophilia
5.3 Confusion Between Genetic and Coagulation Testing
5.4 When to Perform Genetic Testing
5.5 What Reasons might Contribute to Delayed Genetic Diagnosis of Carriership?
5.6 Bleeding Disorders in Carriers of Hemophilia
5.6.1 Why Carriers of Hemophilia may have FVIII or FIX Deficiency
5.6.2 Lower FVIII or FIX Levels in Carriers
5.6.3 Women with Hemophilia: A Discussed Terminology
5.6.4 Consequences of Imprecise Designation of Carriers with Low Factor Level
5.6.5 How Many Carriers of Hemophilia and How Many with a Bleeding Disorder?
5.6.6 Treatment of Bleeding Episodes in Women with Hemophilia
5.6.7 Correlation between FVIII:C/FIX:C Levels and Bleeding Scores in Carriers of Hemophilia
5.6.8 Type of Bleeding Episodes
5.6.9 Menorrhagia
5.6.10 Are Carriers of Hemophilia Protected from Thrombosis?
5.7 Quality of Life of Carriers of Hemophilia
5.8 Carriers of Hemophilia A and B and Pregnancy
5.8.1 Antenatal Management
5.8.1.1 Prenatal Diagnosis (see Chapter 11)
5.8.1.2 Preimplantation Genetic Diagnosis (PGD)
5.8.1.3 Changes of Factor Levels during Pregnancy
5.8.2 Perinatal Management: The Importance of a Written Multidisciplinary Plan
5.8.2.1 Mother
5.8.2.2 Neonate
5.8.3 Risk of Intracranial Hemorrhage in Neonate and Relation to the Mode of Delivery
5.8.4 Postpartum Hemorrhage
5.9 How to Improve Care for Carriers of Hemophilia
5.9.1 Clinical Vignette 1
5.9.2 Clinical Vignette 2
References
Chapter 6 Von Willebrand Disease
6.1 Introduction
6.2 Structure and Function of Von Willebrand Factor
6.3 Von Willebrand Factor Levels and Prevalence of Von Willebrand Disease
6.4 VWF Levels, the Menstrual Cycle and Pregnancy
6.5 Von Willebrand Disease Classification and Inheritance
6.6 Clinical Presentation
6.7 Menorrhagia and Postpartum Hemorrhage
6.8 Diagnosis and Laboratory Testing
6.8.1 Genetic Analysis, Prenatal Diagnosis, and Family Testing
6.9 Management of Von Willebrand Disease
6.9.1 Desmopressin
6.9.2 Antifibrinolytic Therapy
6.9.3 Von Willebrand Factor-Containing Concentrates
6.9.4 Recombinant Von Willebrand Factor Concentrate
6.10 Management of Gynecological Bleeding
6.11 Obstetric Management of Von Willebrand Disease
6.11.1 Pre-Pregnancy Management
6.11.2 Antenatal Management
6.11.3 Intrapartum Management
6.11.4 Postpartum Management
6.12 Neonatal Management
6.13 Cases
6.13.1 Case 1
6.13.2 Case 2
References
Chapter 7 Factor XI Deficiency
7.1 Factor XI Structure and Function in Coagulation
7.2 Incidence and Inheritance of Factor XI Deficiency
7.3 Bleeding Manifestations and Diagnosis of Factor XI Deficiency
7.4 Factor XI Deficiency and Gynecological Issues
7.4.1 Heavy Menstrual Bleeding
7.4.2 Gynecological Surgery
7.5 Factor XI Deficiency and Pregnancy
7.5.1 Antenatal Management
7.5.2 Peripartum Management
7.5.2.1 Tests that Help to Predict Postpartum Bleeding
7.5.2.1.1 Bleeding Phenotype
7.5.2.1.2 Blood Group
7.5.2.1.3 Factor XI Level
7.5.2.1.4 Global Tests of Hemostasis (TEG, ROTEM, and Thrombin Generation)
7.5.2.1.5 Fibrin Density Network
7.5.3 Labor and Delivery
7.5.3.1 Management of Women with Severe Factor XI Deficiency
7.5.3.2 Management of Women with Mild or Moderate Factor XI Deficiency
7.5.3.3 Management of Women with Factor XI Deficiency Requiring Cesarean Section
7.6 Neuroaxial Analgesia and Anesthesia
7.7 Management of Postpartum Period
7.8 Treatment Options
7.8.1 Antifibrinolytic Agents
7.8.2 Factor XI Replacement Therapy
7.8.3 Fresh-Frozen Plasma
7.8.4 Desmopressin
7.8.5 Recombinant Factor VIIa
7.9 Neonatal Bleeding
7.10 Conclusions and Recommendations
References
Chapter 8 Rare Bleeding Disorders
8.1 Introduction
8.2 Clinical Symptoms
8.3 Gynecological and Obstetrical Manifestations in Women with Rare Bleeding Disorders
8.3.1 Menorrhagia or Heavy Menstrual Bleeding
8.3.1.1 Potential Causes of Excessive Menstrual Bleeding
8.3.1.2 Assessment of Menstrual Blood Loss
8.3.2 Other Gynecological Bleedings
8.3.3 Miscarriages
8.3.4 Bleeding During Pregnancy
8.3.5 Postpartum Hemorrhage
8.4 Laboratory Diagnosis
8.4.1 Phenotype
8.4.2 Molecular Diagnosis
8.5 Differential Diagnosis in Women with Menorrhagia
8.5.1 Gynecological Assessment
8.5.2 Testing for Inherited Bleeding Disorders in Women with Menorrhagia
8.5.2.1 Bleeding History
8.5.2.2 Laboratory Testing
8.6 Treatment
8.6.1 Clotting Factor Replacement
8.6.2 Treatment of Menorrhagia
8.6.3 Management of Pregnancy and Childbirth
8.7 Conclusion
References
Chapter 9 Inherited Platelet Defects
9.1 Introduction
9.2 Normal Platelet Function
9.3 Presentation
9.4 Investigation
9.5 Syndromic and Non-Syndromic Inherited Platelet Disorders with Recognized Causative Genes
9.6 Prenatal Diagnosis
9.7 Management
9.7.1 Treatment Options
9.7.2 Pregnancy and Delivery
9.7.3 Surgery Including Dental Surgery
9.7.4 Menorrhagia
9.7.5 Supportive Management
9.8 Future Directions
9.9 Case Histories
9.9.1 Case 1
9.9.2 Case 2
9.10 Conclusion
References
Chapter 10 Genetic and Laboratory Diagnosis
10.1 Introduction
10.2 Phenotypic Analysis of Hemophilia A
10.3 Phenotypic Analysis of Hemophilia B
10.4 Phenotypic Analysis of von Willebrand Disease
10.5 Phenotypic Analysis of Inherited Bleeding Disorders
10.6 Genetic Analysis of Hemophilia A
10.7 Genetic Analysis of Hemophilia B
10.8 Genetic Analysis of von Willebrand Disease
10.9 Guidelines
10.10 Summary
References
Chapter 11 Antenatal Diagnosis
11.1 Introduction
11.2 Genetic Counseling
11.2.1 Confirmation of Diagnosis
11.2.2 Inheritance
11.2.3 Clinical Phenotype
11.2.4 Reproductive Options
11.3 Prenatal Diagnosis
11.3.1 Invasive Prenatal Diagnostic Tests
11.3.1.1 Chorionic Villus Sampling
11.3.1.2 Amniocentesis
11.3.1.2.1 Third-Trimester Amniocentesis
11.3.1.3 Cordocentesis
11.3.2 Non-Invasive Prenatal Diagnostic Tests
11.3.2.1 Ultrasound Assessment
11.3.2.2 Cell-Free Fetal DNA (cffDNA) in Maternal Circulation
11.4 Prenatal Diagnosis of Hemophilia
11.4.1 New Developments in NIPD of Hemophilia
11.5 Prenatal Diagnosis of von Willebrand Disease
11.6 Prenatal Diagnosis of Rare Bleeding Disorders
11.7 Preimplantation Genetic Diagnosis
11.8 Views about and Experiences of Prenatal Diagnosis of Women in Families Affected with Inherited Bleeding Disorders
11.8.1 Attitudes Toward Prenatal Diagnosis
11.8.2 Experiences and Psychological Effects of Prenatal Diagnosis
11.9 Termination of Pregnancy
References
Chapter 12 Analgesia and Anesthesia for Pregnant Women with Inherited Bleeding Disorders
12.1 Introduction
12.2 Non-Pharmacological Methods
12.3 Pharmacological Methods
12.3.1 Inhalation Analgesia
12.3.2 Opioid Analgesia
12.3.3 Regional (Neuraxial) Analgesia and Anesthesia
12.3.3.1 Techniques of Regional (Neuraxial) Blockade
12.3.3.2 Risks and Complications of Regional (Neuraxial) Blockade
12.3.3.3 Coagulopathy and the Risk of Neurological Complications
12.3.3.4 Regional Blockade in Women with Inherited Bleeding Disorders
12.3.3.5 Guidance for the Use of Regional (Neuraxial) Block in Women with Inherited Bleeding Disorders
12.3.4 Other Regional Block Techniques
12.3.4.1 Paracervical Block
12.3.4.2 Pudendal Block
12.3.5 General Anesthesia
12.4 Conclusion
References
Chapter 13 The Newborn
13.1 Introduction
13.2 Developmental Hemostasis
13.2.1 Primary Hemostasis in the Newborn
13.2.2 Secondary Hemostasis in the Newborn
13.3 Laboratory Hemostatic Evaluation of the Neonate
13.4 When to Suspect a Congenital Bleeding Disorder in a Newborn
13.4.1 Newborns with a Positive Family History of a Bleeding Disorder
13.4.1.1 Prenatal Diagnosis of Congenital Bleeding Disorders
13.4.1.2 Optimal Mode of Delivery of the Neonate with a Bleeding Disorder
13.4.2 Newborn Presenting with Bleeding Symptoms
13.4.2.1 Extracranial and Intracranial Bleeding
13.4.2.2 Umbilical Stump Bleeding
13.4.2.3 Venepuncture, Vaccines, and Vitamin K Injections
13.4.2.4 Circumcision in Newborns
13.4.2.5 Hemarthroses, Hematomas, and Oral/Gastrointestinal/Genitourinary Bleeding
13.5 Congenital Bleeding Disorders and Their Presentation in Newborns
13.5.1 Inherited Platelet Disorders
13.5.1.1 Thrombocytopenias
13.5.1.2 Disorders of Platelet Function
13.5.2 Disorders of Coagulation
13.5.2.1 Hemophilia A and B
13.5.2.2 Von Willebrand Disease
13.5.2.3 Vitamin K Deficiency Bleeding (VKDB) in Infancy
13.5.2.4 Rare Coagulation Factor Deficiencies
13.6 Management of Bleeding in Neonates with Congenital Bleeding Disorders
13.6.1 What to Do if a Newborn is Bleeding
13.7 Conclusion
13.7.1 Acknowledgments
References
Chapter 14 Women with Inherited Bleeding Disorders in Different Cultural Settings
14.1 Introduction
14.2 Pakistan
14.2.1 A Difficult Situation
14.2.2 A Happy Ending
14.2.2.1 Comment (Tahira Zafar)
14.3 Malaysia
14.3.1 A Woman with Type 2 von Willebrand Disease
14.3.2 A Woman with Glanzmann Thrombasthenia
14.3.2.1 Comment (Jameela Sahar)
14.4 Lebanon
14.4.1 A Lebanese Woman with Type 3 von Willebrand Disease
14.4.2 A Lebanese Woman with Inherited Factor VII Deficiency
14.4.2.1 Comment (Ali Taher)
14.5 Discussion
References
Index
EULA

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