Autoimmune Disease Diagnosis - Systemic and Organ-specific Diseases, 2e (Jan 4, 2025)_()_(Springer).rar

Foreword
	The Challenges in Diagnosing Autoimmune Diseases
	Diagnostic Delays and Their Impact on Disease and Patient Prognosis
	Diagnostic Versus Classification Criteria in Autoimmune Diseases
Preface
Contents
Part I: Classical Systemic Autoimmune Diseases
	1: Systemic Lupus Erythematosus
		Genetics and Epidemiology
		Clinical Manifestations
		Immunologic Markers
		Diagnosis of SLE
		Disease Activity and Damage
		Therapy and Prevention
		Conclusions
		References
	2: Antiphospholipid Syndrome
		Epidemiology
		History
		Etiology
		Pathophysiology
		Clinical Manifestations
		Laboratory Abnormalities
		Diagnosis of APS
		Therapy and Prevention
		Risk Stratification
		Conclusions
		References
	3: Rheumatoid Arthritis
		Introduction
		Epidemiology
			Risk Factors
				Genetic Risk Factors
				Environmental Risk Factors
		Clinical Presentation
		Serological Features and Autoantibodies
			Acute Phase Reactants
			Autoantibodies
		Diagnosis of Rheumatoid Arthritis
		Prognosis and Treatment
			Disease-Modifying Antirheumatic Drugs (DMARD)
			Treatment Strategy
		References
	4: Juvenile Idiopathic Arthritis
		Introduction
		The International League of Associations for Rheumatology (ILAR)-2001 JIA Classification
		Criticism of the ILAR-2001 Classification
		Toward a Biologic Classification of JIA
		Treatment of JIA
		References
	5: Adult-Onset Still’s Disease (AOSD)
		Introduction
		Clinical Manifestations
		Laboratory Findings
		Radiographic Findings
		Course and Disease Patterns
		Diagnosis and Classification Criteria
		Differential Diagnosis of AOSD
		Treatment of AOSD
		References
	6: Systemic Sclerosis
		Introduction
		Epidemiology
			Incidence and Prevalence
			Age
			Gender Differences
			Environmental and Occupational Exposures
		Genetics
		Laboratory Findings
		Antinuclear Antibodies
		Systemic Manifestations and Comprehensive Overview of Primary Treatment Approaches
		Classification Criteria. SSc Phenotypes by Skin Subsets and Visceral Involvement
		Association with Malignancy
		Considerations and Future Directions
			Early Treatment Dilemma and Current Clinical Strategy
			Need for Definitive Biomarkers for Predicting Disease Evolution
				Variability in Disease Progression and Role of Internal Organ Involvement
				Considerations for Classification Criteria
		References
	7: Sjögren Disease
		Description
		Glandular Involvement
		General Symptoms and Organ-Specific Complications
		Diagnosis
			Glandular Dysfunction
			Laboratory Studies
			Immunological Profile
			Salivary Gland Biopsy
		Classification Criteria
			Criticism on the Diagnostics Criteria
		Treatment
			Glandular Involvement
			Systemic Involvement
		References
	8: Mixed Connective Tissue Disease
		Introduction
		Classification Criteria
		Critical Analysis of the Classification Criteria
		Therapy and Prognosis
		References
	9: Relapsing Polychondritis
		Introduction
		Epidemiology
		Pathogenesis
		Clinical manifestations
			Mild relapsing chondritis phenotype
			Tracheo-bronchial Chondritis Phenotype
			Phenotype associated with myelodysplastic syndrome: VEXAS-RP
			Particular phenotype: MAGIC Syndrome
			Other manifestations
		Laboratory features
		Pathological features
		Diagnostic criteria
		Criticism on the diagnostic criteria
		Recommended initial assessment for any suspected RP case
		Differential diagnosis and common associations
		Prognosis
		Treatment of relapsing polychondritis
		Disease and damage monitoring
		References
	10: Raynaud’s Phenomenon (RP)
		Introduction
		Epidemiology
		Classification
		Pathogenesis
		Clinical Manifestations
		Pathological Features
		Diagnostic Criteria
		Differential Diagnosis
		Prognosis
		Impact of RP on Health-Related Quality of Life
		Treatment
			Nonpharmacological Interventions
			Pharmacological Management
		References
	11: Drug-Induced Autoimmunity
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Serological Features
		Diagnostic Criteria
		Prognosis
		Prediction
		Therapy
		References
	12: Polyautoimmunity and Multiple Autoimmune Syndromes
		Description of the Disease
			What Is Polyautoimmunity?
			Immunological and Genetical Basis of Polyautoimmunity
		Prevalence of Latent and Overt Polyautoimmunity
		Multiple Autoimmune Syndrome
		Clinical Significance of Polyautoimmunity
		Paving the Way for the Autoimmune Tautology
		Diagnostic Criteria
		Can the Disease Be Predicted, and Give PPV and NPV?
		Therapy and Prevention
		Conclusion
		References
Part II: Systemic Vasculitis
	13: Giant Cell Arteritis
		Introduction
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Diagnostic Criteria
		Treatment and Prevention
		References
	14: Polymyalgia Rheumatica
		Epidemiology
		Pathogenesis
		Histopathology
		Clinical Manifestations
		Laboratory Findings
		Imaging Techniques
		Diagnosis
			Differential Diagnosis
			Diagnostic and Classification Criteria
		Treatment
		Conclusions
		References
	15: Takayasu Arteritis
		Epidemiology
		Etiopathogenesis
		Clinical Manifestations
		Laboratory Findings
		Vascular Imaging Techniques
		Histopathology
		Disease Activity Assessment
		Diagnosis
			Associated or Underlying Disorders
			Differential Diagnosis
			Classification and Angiographic Criteria
		Treatment
		Conclusions
		References
	16: Polyarteritis Nodosa
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Laboratory Features
		Histopathological Findings
		Diagnosis
			Biopsy Findings
			Imaging Findings
		Definition and Classification Criteria
		Disease Course and Prognosis
		Treatment
		Conclusions
		References
	17: Microscopic Polyangiitis
		Definition
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Pathological Features
		Serological Features
		Diagnostic Criteria
		Treatment
		References
	18: Granulomatosis with Polyangiitis
		Definition
		Epidemiology
		Physiopathology
		Clinical Manifestations
		Laboratory Test and Radiologic Findings
		Serological Markers (ANCA Detection)
		Diagnosis
		Diagnostic Criteria
		Treatment
		Prognosis
		Conclusions
		References
	19: Eosinophilic Granulomatosis with Polyangiitis (EGPA, Churg–Strauss)
		Introduction
		Pathophysiology
			Genetic Predisposition
			Immune Dysregulation
		Epidemiology
			Incidence and Prevalence
			Triggering Factors
		Clinical Manifestations
			General Symptoms
			Pulmonary
			Ear, Nose, and Throat (ENT)
			Neurological
			Cutaneous
			Gastrointestinal
			Cardiac
			Renal
			Ophthalmological
			Complementary Investigations
		Diagnosis
			Diagnostic Criteria
			Diagnostic Criteria for Relapse or Flare
			Differential Diagnosis
			Prognoses and Outcomes
			Phenotypes According to ANCA Status
		Treatment
			Therapeutic Strategies
			Remission-Induction Regimen
		New Drugs Now Available to Treat AAVs
			Rituximab
			Mepolizumab and By Extension Other Anti-IL5 Agents
		Maintenance Therapy
		Other Treatments
		Prevention of Adverse Events
		Conclusion
		References
	20: Buerger’s Disease
		Introduction
		Signs and Symptoms
		Laboratory Findings and Serological Markers
		Diagnostic Criteria
		Treatment of Buerger’s Disease (TAO)
		References
	21: Behçet’s Disease
		Epidemiology
		History
		Pathogenesis
		Clinical Manifestations
		Biochemical and Serological Features
		Diagnostic Criteria
		Prognosis
		Therapy
		References
	22: Susac Syndrome
		Epidemiology
		History
		Pathogenesis
		Clinical Manifestations
		Imaging Findings
			Brain Involvement
			Eye Involvement
			Vestibulocochlear Involvement
		Laboratory Findings
		Pathological Features
		Diagnosis
		Prognosis
		Treatment
		References
	23: Anti-Glomerular Basement Membrane Disease (Goodpasture’s Syndrome)
		Description of the Disease
		Clinical Findings
		Laboratory Findings and Serological Markers
		Diagnostic Criteria
		Relevant Clinical Settings Associated with Anti-GBM Disease
		Therapy and Prognosis
		References
	24: Kawasaki Disease
		Epidemiology
		Pathogenesis
		Clinical Manifestations (Percentages of Appearance Enclosed in Brackets) [3, 4]
		Laboratory Findings
		Echocardiography
		Diagnostic Criteria
		Incomplete (Atypical) KD
		Differential Diagnosis
		Treatment
		Kawasaki Disease and Multisystem Inflammatory Syndrome in Children (MISC-C)
		References
	25: Cogan’s Syndrome
		Introduction
		The Pathogenesis of Cogan’s Syndrome
		Clinical Features
			Ophthalmic Manifestations
			Audiovestibular Manifestations
			Systemic Manifestations
		Laboratory and Radiological Data
		Treatment
		Diagnostic Criteria
		References
	26: Immunoglobulin A Vasculitis
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Laboratory Findings
		Diagnosis
		Differential Diagnosis
		Classification Criteria
		Treatment
		Conclusions
		References
	27: Cryoglobulinemic Vasculitis
		Pathogenesis
		Epidemiology
		Clinical Manifestations
		Laboratory Features
		Histopathology
		Diagnosis of Cryoglobulinemic Vasculitis and Associated Diseases
		Differential Diagnosis
		Definition and Classification Criteria
		Treatment
		Conclusions
		References
	28: Hypocomplementemic Urticarial Vasculitis (Anti-C1q Vasculitis)
		Epidemiology
		Pathophysiology
		Clinical Presentation
		Laboratory Findings
		Histopathology
		Diagnosis
			Associated Conditions
			Differential Diagnosis
			Diagnostic/Classification Criteria
		Treatment
		Conclusions
		References
	29: Single-Organ Vasculitis
		Definition and Categorization of Single Organ Vasculitis
		Focal Single Organ Vasculitis
			Isolated Aortitis
			Vasculitis of the Breast
			Gynecologic Vasculitis
			Vasculitis of Male Genital Structures
			Vasculitis of Abdominal Structures
		Diffuse Single Organ Vasculitis
			Primary Central Nervous System Vasculitis
			Cutaneous Leukocytoclastic Angiitis
			Cutaneous Arteritis
			Other Cutaneous Single-Organ Vasculitis
			Isolated Retinal Vasculitis
		Conclusions
		References
Part III: Idiopathic Inflammatory Myopathies
	30: Polymyositis
		Introduction
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Pathology
		Diagnosis
		Diagnostic Criteria
		Serological Features
		Treatment
		References
	31: Dermatomyositis
		Introduction
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Pathological Features
		Biomarkers of Muscle Damage
		Autoantibodies
		Electromyography/Electroneurography (Emg/Eng)
		Muscle Ultrasonography
		Magnetic Resonance Imaging (MRI)
		Diagnostic and Classification Criteria
		Therapy
		Prognosis
		References
	32: Sporadic Inclusion Body Myositis
		Description of the Disease
		Diagnostic Criteria
		Criticism of Diagnostic Criteria
		Short Paragraph on Therapy and Prevention
		References
	33: Antisynthetase Syndrome
		Introduction
		Epidemiology
		Clinical Manifestations
			Myositis
			Interstitial Lung Disease
			Arthritis
			Others
		Pathogenesis
		Histology
		Serological Features
		Diagnostic Criteria
		Therapy
		References
	34: Immune-Mediated Necrotizing Myopathy
		Epidemiology
		Etiopathogenesis
		Clinical Features
		Laboratory
		Histology
		Diagnosis and Classification
			Complementary Techniques
		Treatment
		Prognosis
		References
	35: Granulomatous Myositis
		Introduction
		Epidemiology
		Etiology
		Clinical Manifestations
			Sarcoidosis
			Inclusion Body Myositis
			Granulomatous Myopathy with Antimitochondrial Autoantibody
			Granulomatous Myopathy in Other Autoimmune Disorders
			Granulomatous Myopathy and Myasthenia Gravis with Immune Checkpoint Inhibitors
		Pathological Features
		Imaging
		Diagnosis
		Therapy
		Prognosis
		References
	36: Eosinophilic Myositis
		Description of the Disease
			(A) Proposed Diagnostic criteria in Patients with Suspected Eosinophilia-Associated Myopathy [2]
				Focal Eosinophilic Myositis
					Major
					Minor
				Diffuse Eosinophilic Myositis
					Major
					Minor
				Eosinophilic Perimyositis
					Major
					Minor
			(B) Refining Idiopathic Eosinophilic Myositis Classification [12]
				Considering Muscle Biopsy
				Clinical Forms
		Short Paragraph on Therapy and Prevention
		References
	37: Eosinophilic Fasciitis
		Description of the Disease
		Diagnostic Criteria
		Major Criteria
		Minor Criteria
		Exclusion Criteria: Diagnosis of Systemic Sclerosis
		Therapy and Prevention
		References
Part IV: Other Immune-Mediated Systemic Diseases
	38: Sarcoidosis
		Epidemiology
		Etiology
		Immunopathogenesis
		Clinical Presentation and Organ Involvement
			Pulmonary Sarcoidosis
			Skin
			Ocular
			Reticuloendothelial System
			Liver
			Neurosarcoidosis
			Musculoskeletal System
			Heart
			Other Manifestations
			Parasarcoidosis
		Ancillary Tests
		Diagnostic Criteria
		Prognosis and Therapy
			Pulmonary Sarcoidosis
			Extrapulmonary Sarcoidosis
			Refractory Sarcoidosis
		References
	39: Spondyloarthritis
		Introduction
		Signs and Symptoms
		Laboratory Findings and Serological Markers
		Pathogenesis and Environmental Aspects
		Worldwide Incidence and Prevalence
		Diagnostic Criteria
		Prognosis
		Prevention
		Treatment of Spondyloarthritides
		Conclusions
		References
	40: Familial Mediterranean Fever
		Introduction
		Clinical Manifestations
		Laboratory Findings
		Amyloidosis and Other Long-Term Complications
		Genetics
		Diagnosis
		Diagnostic and Classification Criteria
		References
	41: VEXAS Syndrome
		Epidemiology
		Genetics and Pathophysiology
		Clinical Manifestations
		Laboratory Features
			Hematopathology and Histopathology
			Imaging Techniques
		Differential Diagnosis
		Systemic Inflammatory Diseases with a New Scenario After VEXAS Syndrome Discovery
			Relapsing Polychondritis
			Systemic Vasculitis
			Monogenic Autoinflammatory Diseases
		Prognostic Factors in VEXAS Syndrome
		Treatment
		Future Perspectives and Diagnostic/Classification Criteria for VEXAS Syndrome
		Conclusions
		References
	42: Fibromyalgia
		The American College of Rheumatology 1990 Classification Criteria
		The 2010 Fibromyalgia Diagnostic Criteria
		The 2016 Revised Criteria
		The AAPT (ACTTION-APS Pain Taxonomy) Criteria
		References
	43: IgG4-Related Disease
		Introduction
		Epidemiology
		Clinical Manifestations
		Investigative Findings
			Serologic Findings
			Radiographic Findings
			Pathological Findings
		Diagnostic Criteria
		Prognosis
		Treatment
		References
	44: ASIA Syndrome
		Clinical Spectrum
		Laboratory Markers
		Asia Syndrome Diagnostic Criteria
		Can the Disease Be Predicted and Prevented?
			Defining a Population at Risk for Asia Syndrome
			Therapy
		References
	45: Immune Adverse Effects Induced by Checkpoint Inhibitors
		Introduction
		Clinical Manifestations
		Rheumatic and Systemic Syndromes
			Arthritis
			Myositis
			Sicca Syndrome
			Vasculitis
			Sarcoidosis and Others
		Differential Diagnosis
		New Criteria in Progress
		Clinical Approach and Management
		Conclusions
		References
Part V: Endocrine and Reproductive Autoimmune Diseases
	46: Hashimoto’s Thyroiditis
		Disease Description
		History
		Prevalence and Incidence
		Pathogenesis
		Etiology
			Genetic Factors
			Environmental Factors
			Selenium
			Estrogens
			Drugs
		Clinical Presentation
		Diagnosis
			History and Clinical Presentation
			Laboratory Findings
		Diagnostic Criteria
		Silent and Postpartum Thyroiditis
			Silent Thyroiditis
			Postpartum Thyroiditis
		Treatment
		References
	47: Atrophic Autoimmune Thyroiditis
		Introduction
		History
		Epidemiology
		Pathogenesis
		Genetic Factors
		Immunological Factors
		Clinical Manifestations
		Pathological Features
		Diagnostic Studies
		Diagnostic Criteria
		References
	48: Subacute Thyroiditis
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Biochemical Features
		Diagnostic Criteria
		Prognosis
		Treatment
		References
	49: Graves’ Disease
		Introduction
		Epidemiology
		Risk Factors
		Immunopathogenesis of Graves’ Disease
		Clinical Manifestations
			Hyperthyroidism
			Extrathyroidal Manifestations
				Ophthalmopathy
				GD-Associated Dermatopathy
				Thyroid Acropachy
		Diagnosis and Screening
			TSHR Autoantibodies Tests
			Thyroid Imaging
		Treatment Options Graves’ Disease
			ATX-GD-59
			Iscalimab
			TSH-R Small-Molecule Ligands
			TSH-R-Blocking Antibody
		References
	50: Postpartum Thyroiditis
		Introduction
		Epidemiology
		Pathogenesis
		Pathologic Features
		Approach and Biomarkers
		Clinical Manifestations
		Diagnostic Criteria
		Treatment
		Prognosis
		References
	51: Autoimmune Diabetes Mellitus
		Description and Diagnosis of Diabetes as a Syndrome
		Etiological Classification of Diabetes
		Autoimmune Diabetes or Type 1A Diabetes
			From Etiopathogenesis to Diagnosis
			Current Clinical Management of T1D
			Prevention of Beta-Cell Destruction
		Latent Autoimmune Diabetes of Adulthood
		Insulin-Dependent Diabetes Induced with Checkpoint Inhibitors
		References
	52: Autoimmune Adrenalitis
		History and Epidemiology
		Pathogenesis
		Clinical Manifestations
		Pathological Features
		Laboratory Features
		Autoantibodies
		Diagnostic Criteria
		Differential Diagnosis
		Treatment
		Prognosis
		References
	53: Autoimmune Hypophysitis
		Clinical Manifestations
		Diagnostic Criteria and Treatment
		Classification of Forms of Hypophysitis
			Lymphocytic Hypophysitis
			Granulomatous Hypophysitis
			Xanthomatous Hypophysitis
			IgG4-Hypophysitis
			Immune Checkpoint Inhibitor-Induced Hypophysitis
			Other Forms of Hypophysitis
		References
	54: Autoimmune Parathyroid Disease
		Introduction
		History
		Classification of Autoimmune CHP
		Epidemiology
		Genetic
		Autoantibodies
		Animal Models and Cell-Mediated Immunity
		Physiology
		Diagnosis and Clinical Manifestations
		Therapy
		Conclusions
		References
	55: Autoimmune Polyendocrine Syndromes
		APS-1
			Pathogenesis
			Clinical Features
			Diagnosis
		APS-2
			Pathogenesis
			Clinical Features
			Diagnosis
		APS-3
			Clinical Features
			Diagnosis
		APS-4
		Therapy of APSs
		References
	56: Endometriosis
		Description of the Disease and Classification
		Epidemiology and Risk Factors
		Etiopathogenesis
		Endometriosis and Hormonal Regulation
		Endometriosis as an Inflammatory Disease
		Endometriosis-Associated Symptoms
		Endometriosis-Associated or High-Risk Comorbidities
		Serologic Features and Biomarkers
		Diagnosis
		Therapy
		Prevention
		References
	57: Autoimmune Ovarian Insufficiency
		Introduction
		Relationship Between POI and Other Autoimmune Diseases
		Isolated POI
		Ovarian Histology in Patients with Isolated POI
		Cellular Immunity Alterations in Patients with Isolated POI
		Occult Ovarian Insufficiency
		Experimental Animal Models of Autoimmune Oophoritis
		Treatment
		Conclusion
		References
	58: Autoimmune Orchitis
		Description of Orchitis
		Signs and Symptoms of Autoimmune Orchitis
		Laboratory and Imaging Findings of Autoimmune Orchitis
		Serological Markers of Autoimmune Orchitis
		Diagnostic Criteria of Autoimmune Orchitis
		Pathogenesis of Autoimmune Orchitis
		Therapy and Prevention of Autoimmune Orchitis
		References
Part VI: Hepatobiliary and Pancreatic Autoimmune Diseases
	59: Autoimmune Hepatitis
		Introduction
		Diagnostic Criteria
			Autoantibodies
			Histology
		Therapy
		References
	60: Primary Biliary Cholangitis
		Description of the Disease
		Signs and Symptoms of PBC
		Laboratory and Serological Markers in PBC
		Diagnostic Criteria of PBC
			When to Consider PBC?
			How to Diagnose PBC?
				Clinical and Biochemical Abnormalities
				Immunological Abnormalities
				Histologic Abnormalities
			What to Differentiate from PBC?
		Therapy and Prevention
		References
	61: Primary Sclerosing Cholangitis
		Description of Disease
		Signs and Symptoms
		Laboratory Tests and Serology
		Diagnostic Criteria
			Imaging
				Magnetic Resonance Imaging with Cholangiography
				Endoscopic Retrograde Cholangiopancreatography (ERCP)
			Liver Biopsy
		Cholangiocarcinoma (CCA) in PSC Patients
			Definition of MRI Features
		Therapy and Prevention
			Treating Pruritis
			Improving Biochemistry
			Immunosuppressive Therapies
			Anti-fibrotic Therapies
			Relieving Biliary Obstruction
			Modulating the Gut Microbiome
			Cancer Surveillance
		References
	62: Autoimmune Pancreatitis
		Introduction
		Diagnosis
			Clinical Manifestations
			Serology
			Radiological Imaging
			Other Organ Involvement
			Histology
			Diagnostic Criteria
			Differential Diagnosis
		Treatment
		References
Part VII: Gastrointestinal Autoimmune Diseases
	63: Autoimmune Gastritis
		Description of the Disease
		Clinical Manifestations
		Risk of Gastric Cancer
		Laboratory Findings
			Hematologic Features
			Biochemical Features
			Serum Antibodies
		Endoscopic Findings
		Histological Findings
		Diagnostic Criteria
		Treatment and Surveillance
		References
	64: Ulcerative Colitis
		Description of the Disease
		Clinical Manifestations
		Biochemical and Serological Features
		Diagnostic Criteria
		Prognosis
		Prediction
		Therapy and Prevention
		References
	65: Crohn’s Disease
		Description of the Disease
		Clinical Manifestations
		Laboratory Findings
		Serological Markers
		Diagnostic Criteria
		Criticism on the Diagnostics Criteria
		Prediction
		Therapy and Prevention
		References
	66: Celiac Disease
		Description of the Disease
		Signs, Symptoms of CD According to Definitions [3, 4]
		Laboratory Findings
		Serological Markers
		Genetical Markers
		Histologic Markers
		Diagnostic Criteria
		Criticism on the Diagnostics Criteria
			Determination of Intraepithelial Lymphocytes with T-Cell Receptor (TCR γδ+)
			Subepithelial Deposits of IgA Antitransglutaminase Tissue
			Interferon (IFN)-c-Secreting T Cells
			Increased Level of Serum IL-2, IL-8, and IL-10
			Detection of Specific Lymphocytes in Peripheral Blood
		Can the Disease Be Predicted
		Therapy and Prevention
		References
Part VIII: Cutaneous Autoimmune Diseases
	67: Cutaneous Lupus Erythematosus
		Description of the Disease
			Epidemiology
			Pathogenesis
			Classification
		Diagnostic Criteria
			Clinical Manifestations
			Histology
			Direct Immunofluorescence
			Photoprovocation
			Laboratory Parameters
			Organ-Specific Diagnostics and Interdisciplinary Investigations
			Disease Area and Severity Index
		Prevention and Treatment
		References
	68: Pemphigus and Bullous Pemphigoid
		Definition
		Epidemiology
		Pathogenesis
		Clinical Manifestations
		Laboratory Findings
			Pathological Features
			Immunofluorescence and Serological Features
		Diagnostic Criteria
		Prognosis
		Therapy
		References
	69: Vitiligo
		Epidemiology
		Pathogenesis
		Genetic Aspect
		Oxidative Stress and Intrinsic Abnormalities in Melanocytes and Keratinocytes
		Innate Immunity
		Adaptive Immunity
		Diagnosis
			Clinical Manifestations
			Pathology
			Prognosis
			Treatment
			Cosmetic Modalities
		Conclusion
		References
	70: Psoriatic Arthropathy
		Introduction
		A Clinical Spectrum
		Classification Criteria
		PsA Mechanisms
		PsA Treatment
		References
	71: Autoinmune Alopecia/Alopecia Areata
		Introduction
		Clinical Presentation
			SALT Score
			Quality of Life Involvement
		Diagnosis
			Trichoscopy
			Histological Examination
		Treatment
		References
	72: Hidradenitis Suppurativa
		Description of the Disease
		Microbiology, Serological Markers, and Genetic Tests
		Clinical Manifestations and Ultrasound Signs
		Complications
		Associated Diseases and Differential Diagnoses
		Current Diagnostic Criteria: Strengths and Limitations
		Therapy and Prevention
		References
	73: Other Immune-Mediated Dermatosis (Lichen Planus, Erythema Multiforme, Toxic Epidermal Necrolysis, Graft-Versus-Host Reaction)
		Lichen Planus
			Clinical Findings
			Diagnosis
			Management
			Key Features of LP
		Erythema Multiforme
			Clinical Presentation
			Diagnosis
			Management
		Stevens-Johnson’s Syndrome and Toxic Epidermal Necrolysis
			Clinical Findings
			Diagnosis
			Management
		Graft-Versus-Host Disease
			Clinical Findings
			Diagnosis
			Management
		References
Part IX: Cardiovascular and Pulmonary Autoimmune Diseases
	74: Autoimmune Dilated Cardiomyopathy
		Epidemiology
		Clinical Manifestations
		Laboratory Findings
			Electrocardiography
			Pathological Features
			Serological Features
		Diagnostic Criteria
		Prediction of Onset
		Prognosis
		Therapy and Prevention
		References
	75: Rheumatic Fever
		Introduction
		Diagnostic Criteria
		Clinical Presentation
		Treatment
		References
	76: Accelerated Atherosclerosis in Autoimmune Diseases
		Pathogenesis
		Prevalence
		Diagnosis
			Biomarkers
			Instrumental Tools
		Therapy
		References
	77: Idiopathic Interstitial Pneumonias
		Classification of Idiopathic Interstitial Pneumonias
		Clinical Manifestations
		Diagnostic Approach
			Biomarkers
			Radiology
			Lung Function Testing
			Bronchoscopy
			Lung Biopsy
			Multidisciplinary Approach
		Treatment Options
		References
	78: Pulmonary Arterial Hypertension
		Pulmonary Hypertension
			Concept
			Nomenclature and Classification
			Pulmonary Arterial Hypertension (PAH)
			Pulmonary Arterial Hypertension Associated with Systemic Autoimmune Disease
			Clinical Presentation
				Medical History
				Physical Examination
			Diagnosis
			Screening for Pulmonary Hypertension
			Prognosis
			Treatment
				General Measures
			Pharmacological Treatment
				Pulmonary Arterial Hypertension Therapies
					Prostacyclin Analogs
					Prostacyclin Receptor Agonists
					Endothelin Receptor Antagonists
					Phosphodiesterase-5 Inhibitors
					Soluble Guanylate Cyclase Stimulators
				Supportive Measures
				Invasive Procedures
			Treatment Algorithm
		References
Part X: Neurological Autoimmune Diseases
	79: Multiple Sclerosis
		Description of Multiple Sclerosis
		Diagnostic Criteria for Multiple Sclerosis
			Historical Review
				Typical Syndromes
				Objective Evidence
				Dissemination in Space and Time
				“No Better Explanation”: The Differential Diagnosis of Relapsing-Remitting Multiple Sclerosis
		References
	80: Myasthenia Gravis
		Introduction
		Pathophysiology
		Clinical Manifestations
			MG Due to Antibodies Against AChR
			Thymoma-Associated MG
			MuSK Antibody-Associated MG
			Double-Seronegative Generalized MG
			Lrp4 Antibody–Associated MG
		Diagnosis
		Treatment
		References
	81: Paraneoplastic Neurological Syndromes
		General Clinical Manifestations
		Neuronal Antibodies
		High-Risk for Cancer Neurological Syndromes
			Paraneoplastic Encephalomyelitis (PEM)
			Limbic Encephalitis (LE)
			Paraneoplastic Cerebellar Degeneration (PCD)
			Opsoclonus-Myoclonus Syndrome (OMS)
			Sensory Neuronopathy (SN)
		Intermediate-Risk for Cancer Neurological Syndromes
		Diagnostic Criteria
		Management and Prognosis
		References
	82: Guillain-Barre Syndrome and Other Immune-Mediated Neuropathies
		Guillain-Barre Syndrome: An Overview
		Epidemiology
		Etiology and Pathogenesis
		Clinical Course
		Diagnosis
		Treatment
		References
	83: Neuromyelitis Optica
		Introduction
		Epidemiology
		Etiology and Pathogenesis
		Clinical Manifestation
		Diagnosis
			MRI Evidence
			Laboratory Testing
		Treatment
		References
	84: Central Nervous System Vasculitis
		Introduction
		Radiological Diagnostics
		Neuroimaging
		Clinical Manifestations
		CSF Analysis
		Biopsy Findings: Histology
		Secondary CNS Vasculitis (SCNSV)
		Laboratory Tests
		PCNSV Mimickers
		Approach to Diagnosis
		Treatment
		Prognosis
		The Dilemma
		Conclusions
		References
	85: Autoimmune Chorea
		Etiology
		Pathophysiology
		Clinical Manifestation
		Diagnostics
		Treatment
		References
	86: Autoimmune Sensorineural Hearing Loss
		Introduction
		T-Cell-Mediated Autoimmunity in SNHL
		Humoral (Autoantibody) Response in SNHL
		SNHL and the Antiphospholipid Syndrome (APS)
		Treatment of ASNHL
		Criteria for the Diagnosis of ASNHL
		Concluding Comments
		References
	87: Autoimmune Encephalitis
		General Clinical Manifestations
			Anti-NMDAR Encephalitis
			Limbic Encephalitis
			Acute Disseminated Encephalomyelitis
			Antibody-Negative Autoimmune Encephalitis
		Neural Antibodies
		Diagnostic Approach to AE
		Management and Prognosis
		References
	88: Autoimmune Dysautonomia
		Introduction
		Autoimmune Autonomic Ganglionopathy
		Other Autoimmune Autonomic Neuropathies
		References
	89: Cerebellar Autoimmune Diseases
		Introduction
		Clinical Features of Autoimmune Cerebellar Ataxias
		Diagnostic Criteria
		Paraneoplastic Cerebellar Degeneration
		Non-Paraneoplastic ACA Associated with Neuronal Antibodies
			Cerebellar Ataxia and GAD Antibodies
			Non-Paraneoplastic ACA and Infrequent Neuronal Antibodies
		Cerebellar Ataxias Not Associated with Neuronal Antibodies
			Gluten Ataxia
			Postinfectious Cerebellar Ataxia
		Treatment Considerations
		References
	90: Autoimmune Disturbances of Sleeping
		Introduction
		Narcolepsy
		Neuromyelitis Optica Spectrum Disorders (NMOSD)
		Anti-Ma2 and Paraneoplastic Encephalitis
		Anti-NMDA Receptor Encephalitis
		Anti-LGI1 Encephalitis
		Morvan Syndrome
		Anti-IgLON5 Disease
		References
	91: Autoimmune Stiff-Person Syndromes
		Description of the Disease
		Symptoms and Signs [2, 5, 7, 8, 13]
		Electrophysiological Findings [2, 6, 14]
		Associated Antibodies [3, 5–7]
		Diagnosis
			Major Criteria
			Minor Criteria
		Treatment
		References
Part XI: Ocular Autoimmune Diseases
	92: Autoimmune Retinopathies
		Epidemiology
		Pathologic Features
		Clinical Manifestation (Table 92.1)
		Diagnosis (Tables 92.2 and 92.3)
		Differential Diagnosis
		Therapy
		References
	93: Autoimmune Uveitis
		Definition
		Clinical Picture and Classification (Table 93.1)
		Seronegative Spondyloarthropathies
			Inflammatory Bowel Diseases
			Juvenile Idiopathic Arthritis (JIA)
			Behçet Disease
		Vogt–Koyanagi–Harada Syndrome
		Sarcoidosis
		Treatment of Noninfectious Intermediate, Posterior, or Panuveitis
		References
	94: Vogt-Koyanagi-Harada Disease
		Introduction
		Clinical Manifestations
		Differential Diagnosis
		Complementary Tests
		Diagnostic Criteria
		Treatment
		References
	95: Orbital Myositis
		Epidemiology
		Clinical Manifestations
			Biochemical Features
			Imaging
		Pathological Features
		Diagnosis
			Clinical Criteria
			Imaging Criteria
			Response to Corticosteroids
			Compatible Pathological Examination
		Differential Diagnosis
		Treatment
		References
Part XII: Renal Autoimmune Diseases
	96: IgA Nephropathy
		Introduction
		Epidemiology [2–5]
		Clinical Manifestations [2, 3, 6–8]
			Asymptomatic Hematuria and Proteinuria
			Synpharyngitic Macroscopic Hematuria
			Nephrotic Syndrome
			Acute Kidney Injury (AKI)
			Rapidly Progressive Glomerulonephritis (RPGN)
			Malignant Hypertension
			Chronic Kidney Disease
		Other Diseases with IgA Deposition
			Schönlein-Henoch Purpura
			Secondary Forms of IgA Nephropathy
			Pregnancy and IgAN [9]
			Pathology [2, 3, 10, 11]
			Light Microscopy
			Immunofluorescence Findings
			Electron Microscopy
		Oxford Classification [10, 11] (Table 96.2)
		Diagnosis [2, 3]
		New Biomarkers [4, 12]
		Clinical Course and Progression Factors [2, 3, 14]
		Treatment [14–17]
		References
	97: Membranous Nephropathy
		Description of the Disease
		Signs and Symptoms
		Laboratory Findings
		Diagnostic Criteria
		Risk Stratification
		Therapy
		References
	98: Minimal Change Disease
		Description of the Disease
		Signs and Symptoms
		Laboratory Findings
		Diagnostic Criteria
		Therapy and Prevention
			Immunosuppressive Treatment
			Management of Nephrotic Syndrome
		References
	99: Focal and Segmental Glomerulosclerosis
		Introduction
		Epidemiology
		Clinical Presentation
		Evolution and Prognostic Factors
			Evolution
			Prognostic Factors
		Pathology
		Pathogenesis and Biomarkers
		Pathophysiological Mechanisms
		Response to Treatment
			Primary Forms
			Hereditary Forms
			Secondary Forms
		Treatment
			Treatment of Primary Forms
			Treatment of Secondary Forms
			Relapse After RT of the Primary Forms
		Conclusion
		References
	100: Membranoproliferative Glomerulonephritis
		Introduction
		Epidemiology
		Clinical Manifestations
		Pathogenesis
		Pathology
		Serological Characteristics
		Diagnostic Criteria
		Treatment
		Prognosis
		Conclusions
		References
	101: Acute Tubulointerstitial Nephritis
		Description of the Disease
		Signs and Symptoms
		Laboratory Findings
		Diagnostic Criteria
		Therapy
		Follow-Up
		References
	102: Atypical Hemolytic Uremic Syndrome
		Description of the Disease
		Clinical Findings
		Laboratory Findings and Serological Markers
		Diagnostic Criteria
		Therapy and Prevention
		References
Part XIII: Hematologic Autoimmune Diseases
	103: Autoimmune Hemolytic Anemia
		Description of the Diseases
		Classification of AIHA
		Clinical Findings in AIHA
		Laboratory Findings
			Hemolysis Markers
			Immunohematological Findings: The Direct Antiglobulin Test (DAT)
				AIHA with DAT Positivity for IgG (With or Without C3)
				AIHA with DAT Positivity Only for Complement
				AIHA with a Negative Direct Antiglobulin Test (DAT)
				Sensitivity, Specificity, and Predictive Value of the DAT
		Diagnostic Criteria for AIHA
		Current and Emerging Therapeutic Strategies for AIHA
		References
	104: Pernicious Anemia
		Introduction
		Epidemiology
		History
		Pathogenesis
		Clinical Manifestations
		Hematologic Features
		Pathological Features
		Serological and Biochemical Features
		Diagnostic Criteria
		Prognosis
		Predicting the Role of Autoantibodies
		Therapeutic Management
		References
	105: Idiopathic Aplastic Anemia
		Definition
		Epidemiology
		Pathophysiology
		Clinical Manifestations
		Diagnosis
		Treatment
		References
	106: Acquired Adult Pure Red Cell Aplasia
		Classification of PRCA
		Pathophysiology of PRCA
			Antibody-Mediated PRCA
			T-Cell-Mediated PRCA
		Clinical Manifestations
		Laboratory Findings
		Differential Diagnosis
		Diagnostic Criteria
		Therapy
		Prognosis
		References
	107: Autoimmune Neutropenia
		Pathogenesis
		Clinical Presentation
		Hematological Findings
		Serological Tests
		Therapy
		References
	108: Immune Thrombocytopenia
		Definition
		Epidemiology
		Classification
		Pathogenesis
			Primary ITP
				Pathologic Antiplatelet Antibodies
				Defects in Antigen-Presenting Cells and T-Reg Deficiency
				ITP and Complement
			Secondary ITP
		Clinical Manifestations
		Diagnostic Criteria
		Prognosis
		Therapy
		References
	109: Thrombotic Thrombocytopenic Purpura and Other Thrombotic Microangiopathic Hemolytic Anemias
		Definition
		Classification
		Epidemiology
		History
		Pathogenesis
			Acquired and Inhered TTP
		Typical and Atypical Hemolytic Uremic Syndrome
		Clinical Manifestations
			TTP
		Typical Hemolytic Uremic Syndrome
		Atypical Hemolytic Uremic Syndrome
		Diagnostic Criteria (Fig. 109.1)
			TTP
			HUS
		Therapy
			Plasma Exchange
			Steroids
			Rituximab
			Caplacizumab
		Prognosis
		References
	110: Heparin-Induced Thrombocytopenia
		Introduction
		Types of HIT
		Pathophysiology of HIT
		Incidence of HIT
		Clinical Features of HIT
		Clinical Diagnosis of HIT
		Laboratory Test for Anti-PF4 Antibodies
		Treatment
		Anti-PF4 Syndromes
		References
	111: Autoimmune Coagulopathies
		Acquired Hemophilia A
			Clinical Manifestations
			Diagnosis
			Potential Difficulties in the Laboratory Diagnosis of AHA
			Treatment
		Acquired von Willebrand Syndrome
			Diagnosis
		Other Autoimmune Coagulopathies
			Autoimmune Factor V Deficiency
			Autoimmune FXIII Deficiency
		References
Index