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Preclinical Rheumatic Disease, An Issue of Rheumatic Disease Clinics, E-Book

Preclinical Rheumatic Disease, An Issue of Rheumatic Disease Clinics, E-Book

Vivian P. Bykerk

(2016)

Additional Information

Abstract

The ability to intervene at the earliest phases in the pathogenesis of a chronic rheumatic disease caused by auto-inflammatory, autoimmune, or tissue injury mechanisms has th epotential to prevent disease manifestations and consequences, limited loss of quality of life, comorbidity, and costs to society. This issue is dedicated to exploring the stages of rheumatic disease, biologic mechanisms contributing to the pathogenesis along with possible ways to study and screen for persons at risk with the ultimate goal of finding ways to prevent these devastating diseases.

Table of Contents

Section Title Page Action Price
Front Cover Cover
Preclinical RheumaticDisease i
Copyright\r ii
Contributors iii
Contents vii
Rheumatic Disease Clinics\rOf North America\r xii
Foreword xiii
Preface\r xv
Preclinical Inflammatory Rheumatic Diseases 569
Key points 569
Background 569
The initial identification of a preclinical phase of rheumatoid arthritis 570
Terminologies to describe individuals in phases leading up to the development of rheumatoid arthritis 570
Pre-rheumatoid arthritis 572
Preclinical disease 572
The measurement of disease duration 573
An overview of the transitions from health to disease in individuals at risk of rheumatoid arthritis 573
Predicting and preventing rheumatoid arthritis 574
The importance of engaging the patient perspective in the context of research into at-risk phases of disease 575
Lessons for other chronic autoimmune diseases 576
Acknowledgment 576
References 576
Gout 581
Key points 581
Introduction 581
Demographic factors 582
Gender 582
Age 582
Race/Ethnicity 583
Genetic factors 585
Heritability 585
Specific Genetic Factors 586
SLC22A12 586
SLC2A9 586
ABCG2 589
Dietary factors 591
Alcohol 591
Purine-Rich Food 591
Fructose/Sugar-Sweetened Beverages 592
Dairy Products 593
Coffee 594
Vitamin C 594
Cherries 595
Other lifestyle factors 595
Summary 596
References 596
Insights from Populations at Risk for the Future Development of Classified Rheumatoid Arthritis 605
Key points 605
Introduction 605
Stages in the Evolution of Rheumatoid Arthritis 605
Early Stage Studies of Rheumatoid Arthritis Natural History Utilize Several Approaches to Define the “At-Risk” Population 606
Presence of biomarkers in the preclinical period and implications for disease pathogenesis 607
Autoantibodies 607
Findings in classified rheumatoid arthritis 607
Findings in at-risk populations 607
Alterations of Antigen-specific and Innate Lymphocyte Populations 608
Findings in classified rheumatoid arthritis 608
Preclinical Systemic Lupus Erythematosus 621
Key points 621
Introduction 622
Significance of Autoantibodies in Preclinical Systemic Lupus Erythematosus 623
Serologic Markers Observed in a Swedish Systemic Lupus Erythematosus Cohort Before Diagnosis 625
Transition from Incomplete to Classified Systemic Lupus Erythematosus 626
Transition from Undifferentiated Connective Tissue Disease to Systemic Lupus Erythematosus 627
Transition of Neonatal Lupus Erythematosus or Congenital Heart Block Patient Mothers to Systemic Lupus Erythematosus 629
Future Considerations 630
References 632
Genetics, Environment, and Gene-Environment Interactions in the Development of Systemic Rheumatic Diseases 637
Key points 637
Introduction 638
Current research strategies for environmental and genetic risk factors 639
Case-Control Studies 639
Cohort Studies 639
Genome-Wide Association Studies 640
Genetic Risk Scores 641
Gene-environment interactions 641
Rheumatoid Arthritis 642
Genetic risk factors for rheumatoid arthritis: the shared epitope and beyond 642
Environmental risk factors for rheumatoid arthritis: cigarette smoking and more 643
Rheumatoid arthritis gene-environment interaction: HLA-DRB1–cigarette smoking interaction 644
Systemic Lupus Erythematosus 644
Genetic risk factors for systemic lupus erythematosus 645
Environmental risk factors for systemic lupus erythematosus 645
Systemic lupus erythematosus gene-environment interactions 645
Ankylosing Spondylitis 646
Genetic risk factors for ankylosing spondylitis: HLA-B27 dominates 646
Environmental risk factors for ankylosing spondylitis: microbial and gut influences? 647
Ankylosing spondylitis gene-environment interactions: engaging HLA-B27 647
Emerging research strategies 648
Epigenetics 648
Microbiome 648
Metabolomics 649
Future considerations and summary 649
References 650
Is Preclinical Autoimmunity Benign? 659
Key points 659
Introduction 659
Antiphospholipid antibodies, rheumatoid arthritis-related autoantibodies, and cardiovascular disease, as well as subclinica ... 661
Antiphospholipid antibodies, antinuclear antibodies, and rheumatoid arthritis-related autoantibodies and cardiovascular dis ... 662
Possible mechanisms for associations between autoantibodies and atherosclerosis 663
Future considerations 664
References 664
Detecting the Earliest Signs of Rheumatoid Arthritis 669
Key points 669
Introduction 669
Screening and triage tools 670
Undifferentiated arthritis cohorts 673
Qualitative studies 673
Clinics and cohorts to study individuals at risk 676
Summary of symptoms and signs that require ongoing study 679
Summary 680
References 680
Recognition of Preclinical and Early Disease in Axial Spondyloarthritis 685
Key points 685
Introduction 685
Why should axial spondyloarthritis be diagnosed early? 686
What is “early ankylosing spondylitis”? The concept of axial spondyloarthritis 686
Early recognition of ankylosing spondylitis in primary care: the “back pain population” 686
Imaging for earlier recognition of spondyloarthritis 687
Biomarkers for earlier recognition of spondyloarthritis 688
Genetic testing for earlier recognition of spondyloarthritis 689
Future directions: targeting high-risk populations 689
Extra-Articular Manifestations: Inflammatory Bowel Disease, Psoriasis, and Uveitis 689
First-Degree Relatives 690
Risks and benefits of preclinical and early identification 690
Summary 692
References 692
Identifying and Treating Preclinical and Early Osteoarthritis 699
Key points 699
Introduction 699
Risk factors: identifying those at high risk of early osteoarthritis 701
Age 701
Obesity 701
Gender 702
Traumatic Joint Injury 702
The Hip and Congenital Abnormalities 702
Genetic Risk 703
The role of inflammation in osteoarthritis 703
The feasibility of identifying early osteoarthritis 704
Special high-risk groups 704
Imaging approaches to identify persons with early disease 705
Summary and future considerations 708
References 708
Mucosal Immune Responses to Microbiota in the Development of Autoimmune Disease 711
Key points 711
Introduction 711
Overview of mucosal immunity 712
Microorganisms may initiate systemic autoimmunity 714
Potential Mechanisms By Which Microbiota Could Induce Autoimmunity 714
Molecular mimicry 714
Microbial alteration of host antigens 715
Microbial-induced exposure of self-antigens 715
Bystander activation 716
Modulation of immune reactivity 716
Breach of the mucosal firewall 716
The Role of Mucosal Microbiota in Specific Systemic Autoimmune Diseases 717
Rheumatoid arthritis and mucosal microbiota 717
Spondylarthritis and microbial associations of disease 718
Lupus, Sjögren syndrome, and viral microorganisms 718
Barriers to uncovering the link between microbiota and autoimmune disease 719
Implications for prevention or treatment of autoimmune disease 720
Future directions 720
References 720
Challenges in Imaging in Preclinical Rheumatoid Arthritis 727
Key points 727
Introduction 727
Does the Preclinical Phase of Rheumatoid Arthritis Exist? 727
Is Imaging an Effective Noninvasive Method of Identifying Preclinical Inflammatory Arthritis? 728
Ultrasonography and power Doppler 729
Ultrasonography Pros and Cons 730
Magnetic resonance imaging 730
MRI Pros and Cons 732
Positron emission tomography 732
PET Pros and Cons 733
Future directions 733
Challenges in imaging in preclinical rheumatoid arthritis 733
References 734
Identification of Self-antigen–specific T Cells Reflecting Loss of Tolerance in Autoimmune Disease Underpins Preventative I ... 735
Key points 736
Introduction 736
Preclinical Rheumatoid Arthritis 736
The molecular mechanism of shared epitope and Anticitrullinated Protein Antibodies+ Rheumatoid Arthritis 737
Immune tolerance and the development of autoimmunity 738
Measuring antigen-specific T-cell responses 738
Tetramers: tools of the trade 739
Tetramer application: Peptide-bound Major Histocompatibility Complex class I tetramers 740
Peptide-bound Major Histocompatibility Complex class II tetramers 741
Type 1 diabetes 743
Rheumatoid arthritis 744
Summary 748
Acknowledgments 748
References 748
Prediction of Future Rheumatoid Arthritis 753
Key points 753
Introduction 753
Methods 754
Risk factors: the building blocks of prediction 754
Prediction rules: putting the blocks together 756
Screening strategies 757
Summary 760
References 760
Prevention of Rheumatic Diseases 771
Key points 771
Introduction 771
General strategies for disease prevention 772
Potential primary preventive strategies 773
Identification of preclinical phases of rheumatic disease 775
Potential secondary prevention strategies 775
Caveats to prevention 776
Personalizing approaches to prevention 778
The public health impact of prevention 780
Summary and future directions 780
References 780
Developing Evidence-Based Screening Recommendations, with Consideration for Rheumatology 787
Key points 787
Introduction 787
Framework for disease screening 788
Process of the united states preventive services task 789
Step 1: Define the Analytical Framework and Key Questions 789
Step 2: Find, Review, Judge the Quality of, and Summarize the Available Evidence 790
Step 3: Determine the Strength of Evidence 790
Step 4: Determine the Magnitude of Net Benefit 791
Step 5: Determine the Certainty of Net Benefit 791
Step 6: Assign a Letter Grade/Recommendation 792
Evidence-based screening recommendations for rheumatic disease 792
Outcomes tables 793
Future considerations/summary 794
References 794
Lessons from Type 1 Diabetes for Understanding Natural History and Prevention of Autoimmune Disease 797
Key points 797
Introduction 797
Epidemiology 798
Risk factors 798
Genes 798
Environment 799
Pathophysiology and islet autoantibody development 799
Clinical features 801
Management 801
Prevention trials 802
Primary Prevention 802
Secondary Prevention 803
Application to rheumatic diseases 805
Acknowledgments 807
References 807
Index 813