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Wilson's Disease : A Clinician's Guide to Recognition, Diagnosis, and Management - George J. Brewer

Wilson's Disease

A Clinician's Guide to Recognition, Diagnosis, and Management

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Published: 31st May 2001
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Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology.
Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.

List of Figuresp. xvii
List of Tablesp. xix
Forwardp. xxi
Prefacep. xxiii
Acknowledgmentsp. xxvii
Overview of the Disease for the Clinicianp. 1
Introductionp. 1
Cause of Wilson's diseasep. 2
Inheritancep. 3
Clinical Presentationsp. 3
Recognition Problemp. 4
Some Screening Tests are Accuratep. 5
Diagnosis is Usually Straightforwardp. 5
Treatment and Management Conceptsp. 6
Monitoring and Compliancep. 6
Prognosisp. 7
The Clinician's Challenge: Recognizing Wilson's Diseasep. 9
Introductionp. 9
The Neurological Presentationp. 10
If Your Patient Has Movement Disorder-Type Neurological Symptoms (Important Ones Are Dysarthria, Tremor, Dystonia, and Incoordination)p. 10
Disasters and Near Disasters Caused by Clinicians Failing to Diagnose Wilson's Disease Patients with a Neurologic Presentationp. 14
Full-blown Neurologic Syndrome Unrecognizedp. 14
Tremor Unrecognizedp. 15
Parkinsonism-like Syndrome, Unrecognized at Firstp. 15
The Hepatic Presentationp. 16
Hepatitis and Episodic Hepatitisp. 16
Cirrhosisp. 17
Hepatic Failurep. 18
Severe Hepatic Failurep. 19
Mild Hepatic Failurep. 20
Intermediate Hepatic Failurep. 21
Disasters Caused by Clinicians Failing to Diagnose
Wilson's Disease Patients with Hepatic Presentationsp. 21
Chronic Hepatitis and Liver Failure Unrecognizedp. 21
Cirrhosis, Hepatic Failure, and Family History Unrecognizedp. 21
The Behavioral Change Presentationp. 21
Recognition of Wilson's Disease by Psychiatrists--The Good, and the Badp. 24
The Presymptomatic Patientp. 24
Disasters Related to Screening Presymptomatic Patientsp. 25
A Partial Disaster When a Physician Ignores Wilson's Disease Screening Datap. 25
Two Deaths, at Least One of Them Unnecessaryp. 25
Other Situations in Which Wilson's Disease May be Presentp. 26
Key Points with Respect to Recognition of Possible Wilson's Diseasep. 27
Simple Approaches to Screening and Definitive Diagnosisp. 29
Introductionp. 29
Screening Tests and Proceduresp. 29
The 24-Hour Urine Copper Assayp. 29
Kayser-Fleischer Ring Examinationp. 34
Serum Ceruloplasmin Assayp. 34
Not Very Useful and/or Confusing Testsp. 35
How to Screen Patients for Wilson's diseasep. 36
Neurologic/Psychiatric Presentationp. 36
Hepatic Presentationp. 38
Presymptomatic Patientsp. 39
Making a Definitive Diagnosis of Wilson's Diseasep. 42
Definitive Diagnosis Without a Liver Biopsyp. 42
Liver Biopsy with Measurement of Quantitative Copperp. 42
Diagnostic Dilemmasp. 44
Long-Standing Hepatic Failure or Obstructionp. 44
Other Diagnostic Dilemmasp. 47
Disasters and Near Disasters Related to Screening and Diagnostic Testsp. 47
Serum Copper Levels Misinterpretedp. 47
Liver Copper Assay in Errorp. 48
DNA Mutation Test, Misinterpretedp. 48
Description of the Anticopper Drugs Which are Used in Wilson's Disease Therapyp. 49
Introductionp. 49
Zincp. 49
Mechanism of Anticopper Action of Zincp. 49
Main Uses of Zinc in Wilson's Diseasep. 51
Evidence of Uniform Efficacy of Zinc in Wilson's Diseasep. 53
An Unusual Case of Non-Compliance With Maintenance Zinc Therapyp. 55
Toxicity of Zincp. 56
Monitoring Zinc Therapyp. 57
Trientinep. 59
Mechanism of Anticopper Action of Trientinep. 59
Main Uses of Trientine in Wilson's Diseasep. 59
Evidence of Uniform Efficacy of Trientine in Wilson's Diseasep. 59
Toxicity of Trientinep. 60
Monitoring Trientine Therapyp. 61
Tetrathiomolybdatep. 62
Mechanism of Anticopper Action of Tetrathiomolybdate (TM)p. 62
Main Use of Tetrathiomolybdate in Wilson's Diseasep. 63
Evidence of Efficacy of Tetrathiomolybdate in the Initial Treatment of Neurologic Wilson's Diseasep. 63
Toxicity of Tetrathiomolybdatep. 64
Monitoring Tetrathiomolybdate Therapyp. 65
Penicillaminep. 65
Mechanism of Anticopper Action of Penicillaminep. 62
Main Uses of Penicillamine in Wilson's Diseasep. 62
Evidence of Uniform Efficacy of Penicillamine in Wilson's Diseasep. 66
Toxicity of Penicillaminep. 67
Monitoring Penicillamine Therapyp. 68
Other Anticopper Drugsp. 68
Overview of Management for the Clinician: What's Important and What's Notp. 69
Introductionp. 69
Anticopper Drug Therapy Overview--Importantp. 70
Keys to Successful Initial Therapyp. 70
Drug Choicep. 70
Drug Dose and Directions for Usep. 70
Monitoring for Drug Toxicityp. 70
Monitoring for Copper and/or Zinc Response (Compliance)p. 71
Keys to Successful Maintenance Therapyp. 71
Drug Choicep. 71
Drug Dose and Directions for Usep. 71
Monitoring for Drug Toxicityp. 72
Monitoring for Copper Response (Compliance)p. 72
Diet--Generally Not Importantp. 73
Drinking Water--Occasionally Importantp. 74
Patients Signs and Symptoms--Always Importantp. 74
Hepatic Complications and Symptomatologyp. 74
Neurologic Complications and Symptomatologyp. 76
Psychiatric Complications and Symptomatologyp. 77
Initial Treatment of Patients Who Present With Liver Diseasep. 79
Introductionp. 79
Initial Therapy of Patients With Hepatic Failurep. 79
Review of Severe, Intermediate, and Mild Hepatic Failurep. 79
Triaging Patients for Hepatic Transplantation Versus Initial Medical Therapyp. 81
Hepatic Transplantation in Wilson's Diseasep. 85
Indications for Hepatic Transplantationp. 85
Non-indications for Hepatic Transplantationp. 86
Anticopper Therapy While Awaiting Transplantationp. 88
Medical Therapy for Mild Hepatic Failurep. 89
Medical Therapy for Intermediate Hepatic Failurep. 91
A Disaster Resulting From a Failure to Adequately Reevaluate the Status of a Patient with Intermediate Hepatic Failure During Medical Therapyp. 93
Initial Therapy of Patients With Hepatitisp. 94
Initial Therapy of Patients With Cirrhosisp. 95
Initial Treatment of Patients Who Present With Neurological and/or Psychiatric Diseasep. 97
Introductionp. 97
Neurological Worsening of Patients With Initial Penicillamine Therapyp. 98
Recommended Therapy--Tetrathiomolybdatep. 99
Method of Therapyp. 99
Results in an Open Studyp. 100
Potential for Accessing Tetrathiomolybdate Therapyp. 101
Alternative Therapiesp. 102
Zincp. 102
Trientinep. 102
Maintenance Therapyp. 105
Introductionp. 105
Definition of Maintenance Therapyp. 105
Objectives of Maintenance Therapyp. 105
Recommended Maintenance Therapy--Zincp. 106
Method of Therapyp. 106
Dietary Recommendationsp. 107
Monitoring Zinc Therapyp. 108
Zinc Side Effectsp. 109
Overtreatmentp. 109
Results of Zinc Therapy in a Large Series of Patientsp. 110
Alternative Maintenance Therapyp. 114
Trientinep. 114
Penicillaminep. 115
Therapy of the Presymptomatic, the Pediatric, and the Pregnant Patientp. 117
Therapy for the Presymptomatic Patientp. 117
Definition of Presymptomatic Patientp. 117
Usual Methods of Ascertaining Presymptomatic Patientsp. 117
Recommended Therapy for the Presymptomatic Patient--Zincp. 118
Alternative Therapy for the Presymptomatic Patientp. 118
Near Disaster and a Disaster Using Penicillamine Therapy in Initial Therapy of Presymptomatic Patientp. 120
Therapy for the Pediatric Patientp. 121
Introductionp. 121
Evidence for Early Disease and Therefore a Rationale for Early Treatmentp. 121
Need to Avoid Overtreatment with Anticopper Agents in Children with Wilson's Diseasep. 122
Recommended Therapy for the Pediatric Patient--Zincp. 122
Alternative Therapy for the Pediatric Patientp. 122
Therapy for the Pregnant Patientp. 123
Need to Maintain Therapy During Pregnancyp. 123
Teratogenicity of Anticopper Therapyp. 124
Recommended Therapy for the Pregnant Patient--Zincp. 124
Alternative Therapy for the Pregnant Patient--Trientinep. 124
Risk Factors During Maintenance Therapy and Prognosisp. 127
Introductionp. 127
A General Risk Factor--Poor Compliancep. 127
Disasters Related to Poor Compliance With Anticopper Therapyp. 130
Hepatic Risk Factorsp. 131
Variceal Bleedingp. 131
Hepatic Failurep. 132
Neurological Risk Factorsp. 132
Aspirationp. 132
Infectionp. 133
Accidentsp. 133
Psychiatric Risk Factorsp. 133
Suicidep. 133
Prognosisp. 133
Disease Pathogenesis and Geneticsp. 135
Introductionp. 135
Does Copper Toxicity Cause Wilson's Disease?p. 135
Normal Copper Handlingp. 136
Defective Biliary Excretion of Copper in Wilson's Diseasep. 136
The Genetics of Wilson's Diseasep. 137
Gene Defect in Wilson's Diseasep. 139
From Gene Defect to Copper Accumulation, Organ Damage, and Symptomsp. 143
Important Pathogenic Questionsp. 144
Animal Modelsp. 146
Summary of Our Knowledge of Pathogenesisp. 147
Disease Pathologyp. 149
Introductionp. 149
The Nature of Copper Toxicityp. 149
Liver Pathologyp. 151
Brain Pathologyp. 152
Pathology in Other Organsp. 153
The Female Reproductive Systemp. 153
The Skeletal Systemp. 153
The Kidneysp. 154
The Eyesp. 155
The Heartp. 155
Summaryp. 155
History, Important Milestones, and the Futurep. 157
Introductionp. 157
History of Wilson's Diseasep. 157
Historical Milestones in Wilson's Diseasep. 160
Future Challengesp. 160
Recognitionp. 160
Better Screening Methodsp. 162
Improved Compliancep. 163
Improved Therapyp. 163
Improved Understanding of Gene Functionp. 164
Summaryp. 164
Table of Contents provided by Syndetics. All Rights Reserved.

ISBN: 9780792373544
ISBN-10: 0792373545
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 190
Published: 31st May 2001
Publisher: Springer
Country of Publication: NL
Dimensions (cm): 23.5 x 15.5  x 1.42
Weight (kg): 1.09