Immune-Mediated Myopathies and Neuropathies

Description:

The book covers all aspects of immune-mediated diseases of the muscle and nerve, which are a group of complex diseases, whose diagnosis needs a team of specialists in the field of neuropathology, immunopathology, neurology, and rheumatology. Nerve and muscle biopsy evaluation is invaluable in distinguishing immune-mediated from etiologies and therefore, despite being invasive, pathological evaluation of nerve and muscle has stood the test of time. Chapters cover all the essential aspects of each disease entity viz. the pathogenesis, clinical features, diagnostic armamentarium, and guidelines for diagnosis and management. It is supplemented with full-colorful illustrations and photomicrographs for better comprehension. It includes a chapter highlighting the current progress in the field of immune-mediated myopathies and neuropathies as it is a rapidly evolving field with the addition of many new entities.

This clinically oriented book serves as a primer for general histopathologists as well as a practice guide for neuropathologists. It is also relevant for neurologists and rheumatologists and encourages young medical students, residents, and research scholars in the field of neuropathology, neurology, and rheumatology to get involved in active research.

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Table of contents :

Acknowledgments
Contents
About the Author
Part I: Immune-Mediated Myopathies
1: Introduction to Immune-Mediated Myopathies
1.1 Normal Skeletal Muscle
1.2 Immunometabolism of Skeletal Muscle
1.3 Immune Cells and Inflammatory Myopathies
1.4 Interferons in Inflammatory Myopathies
1.5 Conclusion
References
2: Diagnostic Evaluation of Immune-Mediated Myopathies
2.1 Introduction
2.2 Clinical Features
2.3 Serum Muscle Enzymes
2.4 Electrodiagnostic Studies
2.4.1 Nerve Conduction Studies
2.4.2 Electromyography
2.5 Muscle Imaging
2.5.1 Muscle MRI and Muscle Biopsy for IIM Diagnosis
2.6 Autoantibodies in Myositis
2.7 Muscle Biopsy
2.8 Conclusion
References
3: Classification of Immune-Mediated Myopathies
3.1 Introduction
3.2 Dermatomyositis
3.3 Sporadic Inclusion Body Myositis
3.4 Immune-Mediated Necrotizing Myopathy
3.5 Antisynthetase Syndrome
3.6 Overlap Myositis
3.7 Antimitochondrial M2-Associated Myopathy
3.8 Anti-Program Cell Death 1/PD-1 Ligand Inhibitor-Associated Myositis
3.9 Polymyositis
3.10 Conclusion
References
4: Idiopathic Inflammatory Myopathies
4.1 Introduction
4.2 Dermatomyositis
4.2.1 Introduction
4.2.2 Pathological Criteria for DM
4.2.3 Pathophysiology of DM
4.2.4 Juvenile Manifestations of DM and Inherited Interferonopathies
4.2.5 Treatment in DM
4.2.6 Cancer and DM
4.2.7 Conclusion
4.3 Sporadic Inclusion Body Myositis
4.3.1 Introduction
4.3.2 Nomenclature
4.3.3 Epidemiology
4.3.4 Clinical Features of sIBM
4.3.5 Anti-cN1A Autoantibody
4.3.6 Microscopic Pathology
4.3.7 Diagnostic Criteria
4.3.8 Associated Disorders and Comorbidities
4.3.9 Progression
4.3.10 sIBM Therapeutics
4.3.11 Pathogenesis of sIBM
4.3.12 Conclusion
4.4 Polymyositis
4.5 Conclusion
References
5: Specific Forms of Immune-Mediated Necrotizing Myopathies
5.1 Introduction
5.2 Diagnostic Criteria for IMNM
5.2.1 General Features of IMNM
5.2.2 Anti-SRP Autoantibodies
5.2.3 Anti-HMGCR Autoantibodies
5.3 Epidemiology
5.3.1 Prevalence, Incidence, and Risk Factors
5.3.2 Anti-SRP-Positive IMNM
5.3.3 Anti-HMGR-Positive IMNM
5.3.4 Seronegative IMNM
5.4 Clinical Features
5.4.1 Muscular Phenotype
5.4.1.1 Seropositive IMNM
5.4.1.2 Seronegative IMNM
5.4.2 Extramuscular Phenotype
5.4.2.1 Anti-SRP-Positive IMNM
5.4.2.2 Anti-HMGCR-Positive IMNM
5.4.2.3 Seronegative IMNM
5.5 Microscopic Pathology
5.5.1 General Pathology of IMNM
5.5.2 Immunohistochemistry of IMNM
5.6 Disease Course and Prognosis
5.6.1 Seropositive IMNM
5.6.2 Seronegative IMNM
5.7 Pathogenesis of Seropositive IMNM
5.7.1 Targets of Autoantibodies
5.7.2 Effects of Autoantibodies In Vitro
5.8 Treatment Recommendations for IMNM
5.9 Conclusions
5.10 Antisynthetase Syndrome
5.10.1 Introduction
5.10.2 Epidemiology
5.10.3 Pathogenesis
5.10.4 Diagnosis
5.10.5 Clinical Symptoms
5.10.6 Myositis
5.10.7 Extramuscular Manifestations
5.10.8 Outcome and Prognosis
5.10.9 Overview of Treatment Possibilities
5.10.10 Conclusion
5.11 IIMs that Mimic IMNM
References
6: Overlap Myositis
References
7: Vasculitic Myopathy
7.1 Introduction
7.2 Large Vessel Vasculitis
7.3 Medium Vessel Vasculitis
7.4 Small-Vessel Vasculitis
7.4.1 ANCA-Associated/Pauci-Immune Vasculitis
7.4.2 Immune-Complex Mediated Vasculitis
7.4.3 Anti-glomerular Basement Membrane Disease
7.4.4 Cryoglobulinemic Vasculitis
7.4.5 IgA Vasculitis (Henoch–Schönlein Purpura)
7.4.6 Hypocomplementemic Urticarial Vasculitis (Anti-C1q Vasculitis)
7.4.7 Variable Vessel Vasculitis
7.4.8 Single-Organ Vasculitis
7.5 Skeletal Muscle Vasculitis
7.5.1 Takayasu Arteritis
7.5.2 Giant Cell Arteritis
7.5.3 Polyarteritis Nodosa
7.5.4 Kawasaki Disease
7.5.5 Granulomatosis with Polyangiitis
7.5.6 Microscopic Polyangiitis
7.5.7 Eosinophilic Granulomatosis with Polyangiitis
7.5.8 Cryoglobulinemic Vasculitis
7.5.9 IgA Vasculitis
7.5.10 Anti-C1q Vasculitis
7.5.11 Cogan’s Syndrome
7.5.12 Behçet’s Disease
7.5.13 Single-Organ Vasculitis
7.5.14 Vasculitis Associated with Systemic Disease
7.6 Conclusion
References
8: Sarcoid Myopathy and Other Immune-Mediated Granulomatous Myopathies
8.1 Introduction
8.2 Sarcoid Myopathy
8.2.1 Introduction
8.2.2 Clinical Features
8.2.3 Non-invasive Investigations
8.2.4 Muscle Biopsy
8.2.5 Management and Prognosis
8.3 Idiopathic Granulomatous Myositis
8.4 Giant Cell Myositis
8.5 Conclusion
References
9: Paraproteinemia Associated Myopathy
9.1 Introduction
9.2 Amyloid Myopathy
9.3 Sporadic Late-Onset Nemaline Myopathy (SLONM)
9.4 Conclusion
References
10: AntiAMA-M2 Myopathy
10.1 Introduction
10.2 Pathogenesis
10.3 Clinical and Laboratory Findings
10.4 Muscle Biopsy
10.5 Conclusion
References
11: Paraneoplastic Myopathy
11.1 Introduction
11.2 Dermatomyositis (DM)
11.3 Sporadic Inclusion Body Myositis (sIBM)
11.4 Immune-Mediated Necrotizing Myopathy (IMNM)
11.5 Conclusions
References
12: Mimics of Immune-Mediated Myopathy
12.1 Introduction
12.2 Muscular Dystrophies
12.2.1 Facioscapulohumeral Muscular Dystrophy
12.2.2 Dysferlinopathy
12.2.3 Calpainopathy
12.2.4 Role of MHC Staining
12.3 Metabolic Myopathies
12.3.1 Acid Maltase Deficiency (Pompe Disease)
12.3.2 McArdle’s Disease
12.3.3 Mitochondrial Myopathies
12.4 Endocrine Myopathies
12.4.1 Thyroid Myopathies
12.4.2 Other Endocrine Myopathies
12.5 Nervous System Disease
12.6 Focal Disease
12.7 Conclusions
References
13: Current Concepts and Future Prospects in Immune-Mediated Myopathies
13.1 Introduction
13.2 Interferons in Muscle Disease
13.2.1 IFN-I
13.2.2 IFN-II
13.2.3 IFN-III
13.2.4 Genetic Interferonopathies Share Common Features with DM
13.2.5 Skin Manifestations
13.2.6 Muscle Manifestations
13.2.7 IFN Pathway and DM-Specific Autoantibodies
13.2.8 IFN Pathway Is Activated in DM
13.2.8.1 Muscle Tissue
13.2.8.2 Skin Tissue
13.2.8.3 Blood
13.2.9 IFN Production in DM
13.2.9.1 Immune Cells and IFN Production
13.2.9.2 Muscle Cells
13.2.9.3 Keratinocytes
13.2.10 IFNs Induce Muscle Damage
13.2.11 Interferon Pathway Activation in ASS
13.2.11.1 IFN-II Pathway in Muscle of ASS
13.2.11.2 IFN-II Pathway in Lungs of ASS Patients
13.2.11.3 IFN Pathways in the Blood of ASS Patients
13.2.12 Interferon Pathway Activation in sIBM
13.2.12.1 IFN-II Pathway in Muscle Tissue of sIBM
13.2.12.2 IFN-II Pathway in the Blood of sIBM
13.2.12.3 IFN-II Pathway and Muscle Degeneration
13.2.13 IFN and IMNM
13.2.14 Conclusion
13.3 Myositis Associated with Graft-Versus-Host Disease
13.3.1 Introduction
13.3.2 Pathophysiology of GVHD Myositis
13.3.3 Incidence and Onset of GVHD Myositis
13.3.4 Clinical Features
13.3.5 Muscle Enzymes and Autoantibodies
13.3.6 Imaging
13.3.7 Pathology
13.3.8 Association with GVHD
13.3.9 GVHD vs De Novo Myositis
13.3.10 Treatment
13.3.11 Outcome
13.3.12 Conclusion
13.4 SARS-CoV-2 Myopathy
13.4.1 Muscle Biopsy
13.4.2 Conclusion
13.5 Immune Checkpoint Inhibitors Associated Myopathy
13.5.1 Introduction
13.5.2 Epidemiology
13.5.3 Treatment Options for ICI-Induced Musculoskeletal Manifestations
13.5.4 Immunotherapy Type and Musculoskeletal Manifestations
13.5.5 Conclusion
References
Part II: Immune-Mediated Neuropathies
14: Introduction to Immune-Mediated Neuropathies: A Brief Overview of the Nervous System
14.1 Neurons
14.2 Synapse
14.3 Types of Neurons
14.3.1 Multipolar
14.3.2 Bipolar
14.3.3 Unipolar
14.4 Peripheral Nerve
14.5 Immune-Mediated Neuropathies
References
15: Diagnostic Evaluation of Immune-Mediated Neuropathies
15.1 Introduction
15.2 Initial Steps
15.3 Clinical History
15.4 Neurological Examination
15.4.1 Type of Nerve Fiber Involvement
15.4.2 Distribution of Symptoms
15.5 Electrodiagnostic Studies
15.6 Laboratory Testing
15.6.1 Examination of the Cerebrospinal Fluid
15.6.2 Genetic Testing
15.6.3 Nerve Biopsy
15.6.4 Peripheral Nerve Imaging
15.6.5 Other Examinations
15.7 Conclusion
References
16: Classification of Immune-Mediated Neuropathies
16.1 Classification
17: Immune-Mediated Demyelinating Neuropathies
17.1 Introduction
17.2 Guillain-Barré Syndrome
17.2.1 Pathogenesis
17.2.2 Clinical Features
17.2.3 Electrophysiological Findings
17.2.4 Laboratory Investigations
17.2.5 Role of Nerve Biopsy in GBS
17.2.6 Treatment
17.2.7 Paraneoplastic GBS
17.3 Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
17.3.1 Introduction
17.3.2 Clinical Features of Typical CIDP
17.3.3 Electrodiagnostic Features and Ancillary Testing
17.4 Patterns Suggestive of Atypical CIDP or Disease Mimickers
17.4.1 Rapid Clinical Progression by Definition
17.4.2 Length-Dependent Sensory-Greater-Than-Motor, Axonal-Predominant Peripheral Neuropathy
17.4.3 Non-Length-Dependent Sensory Ganglionopathy/Neuronopathy
17.4.4 Upper-Limb-Predominant Neuropathy
17.4.5 Sensory and Motor Demyelinating Neuropathy
17.4.6 Sensory and Motor Axonal Polyradiculoneuropathy
17.4.7 CIDP with a Paraprotein
17.4.8 Paraneoplastic CIDP
17.5 Conclusions
References
18: Immune-Mediated Axonal Neuropathies
18.1 Introduction
18.2 Vasculitic Neuropathy
18.2.1 Introduction
18.2.2 Classification
18.2.3 Clinical Features
18.2.4 Nonsystemic Vasculitic Neuropathy with Proximal Involvement (Nondiabetic Lumbosacral Radiculoplexus Neuropathy)
18.2.5 Subtypes
18.2.6 Imaging
18.2.7 Conclusion
18.3 Connective Tissue Disorders
18.4 Sarcoidosis
18.4.1 Neurosarcoidosis Consortium Consensus Group Definition and Consensus Diagnostic Criteria for Neurosarcoidosis
18.5 Immune-Mediated Gastrointestinal Disorders
18.5.1 Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis
18.5.2 Celiac Disease
18.6 Paraprotein-Associated Neuropathy
18.6.1 Epidemiology
18.6.2 Pathogenesis
18.6.3 IgM Paraproteinaemic Disorders
18.6.4 IgG or IgA Paraproteinaemic Disorders
18.6.5 IgM, IgG, or IgA Paraproteinaemic Disorders
18.6.6 Investigations
18.6.7 Nerve Biopsy
18.6.7.1 Endoneural Immunoglobulin Deposits
18.6.8 Conclusion
18.7 Paraneoplastic Disease
18.7.1 Types of Neuropathy
18.7.2 Diagnosis
18.7.3 Conclusion
18.8 Axonal GBS
18.9 Idiopathic Perineuritis
References
19: Mimics of Immune-Mediated Neuropathy
19.1 Introduction
19.2 Diagnosis of Peripheral Neuropathies
19.3 Acquired Neuropathies
19.3.1 Metabolic Neuropathies
19.3.1.1 Endocrine
19.3.1.2 Vitamin Deficiencies
19.3.2 Toxic Neuropathies Metals
19.3.3 Drugs
19.3.4 Chemicals and Plants
19.3.5 Neurolymphomatosis
19.3.6 Hansen’s Neuritis
19.3.7 Cholesterol Emboli Neuropathy
19.4 Conclusions
References
20: Current Concepts and Future Prospects in Immune-Mediated Neuropathies
20.1 Immune Checkpoint Inhibitors
20.1.1 Introduction
20.1.2 Approach to Differential Diagnosis
20.1.2.1 Clinical Features
20.1.3 Conclusions
20.2 Coronavirus Disease 19 (COVID-19)/Coronavirus 2 (SARS-CoV-2) Associated Peripheral Neuropathy
20.2.1 Introduction
20.2.2 Peripheral Nervous System Manifestations and Complications
20.3 Humoral Immune Endoneurial Microvasculopathy
20.3.1 Introduction
20.3.2 Conclusion
References