Large and Medium Size Vessel and Single Organ Vasculitis (Rare Diseases of the Immune System)

The vasculitides are a heterogeneous group of relatively rare conditions that canoccur independently by other conditions (primary vasculitis), or they can representa manifestation of a well-established disease (secondary vasculitis). Vasculitis maybe localized to a single organ or vascular bed, or, they are, more commonly, generalized.The most widely accepted classification system, the 2012 Revised Chapel HillConsensus Conference (2012 CHCC), is based on vessel size predominantlyinvolved (large-, medium-, and small-vessel vasculitis) and association with antineutrophilcytoplasmic antibodies (ANCA). (Jennette JC, Falk RJ, Bacon PA, et al.2012 revised International Chapel Hill Consensus Conference Nomenclature ofVasculitides. Arthritis Rheum. 2013;65(1):1–11). Furthermore, vasculitis affectingvessels of variable size and single organ vasculitis are included. According to the2012 CHCC definition, single organ vasculitis is a vasculitis involving arteries orveins of any size in a single organ without evidences indicating the presence of asystemic vasculitis. The involved organ and vessel type should be included in thename (e.g., cutaneous small-vessel vasculitis, testicular arteritis, central nervoussystem vasculitis). Vasculitis distribution may be unifocal or multifocal (diffuse)within an organ.This book will provide detailed and updated information on the nosology, pathology,pathogenesis, clinical presentation, diagnosis, and treatment of large- andmedium-sized vessel and single organ vasculitis, critically discussed by the mostexpert physicians and researchers in the field. Among the conditions considered aregiant cell arteritis, Takayasu arteritis, polyarteritis nodosa, primary central nervoussystem vasculitis, isolated aortitis, isolated gastrointestinal vasculitis, cutaneousvasculitis, and isolated genitourinary vasculitis. Finally, arterial and venous involvementin Behcet’s disease will be discussed as well. Preface Contents Part I: Giant Cell Arteritis 1: Classification Criteria References 2: Epidemiology and Genetics 2.1 Epidemiology 2.2 Genetics References 3: Pathogenesis 3.1 Introduction 3.2 Model of GCA Pathogenesis 3.3 Role of Infectious Agents 3.4 Genetics 3.5 Immune Effectors of Inflammation in Arteries 3.6 Arterial Remodeling 3.7 Epigenetics 3.8 MicroRNA 3.9 Deregulation of the Immune System in Peripheral Blood 3.10 Pathways Proven to be Involved in GCA Pathogenesis References 4: Clinical Manifestations, Differential Diagnosis, and Laboratory Markers 4.1 Clinical Manifestations of Giant Cell Arteritis 4.2 Differential Diagnosis of Giant Cell Arteritis 4.3 Laboratory Markers References 5: Histopathology and Imaging 5.1 Imaging 5.2 Temporal Artery Imaging 5.3 Large-Vessel Imaging References 6: Prognosis and Disease Activity 6.1 Risk for Complications and Comorbidities During Disease Course 6.2 Risk Factors and Biomarkers for Disease Activity in Giant Cell Arteritis 6.3 Additional Biomarkers for Assessment of Prognosis-Relevant Comorbidities References 7: Treatment and Management 7.1 General Aspects 7.2 Glucocorticoids as First-Line Treatment 7.3 Glucocorticoid(GC)-Sparing Agents 7.4 Treatment of Comorbidities/Adjuvant Therapies References Part II: Takayasu Arteritis 8: Classification Criteria, Epidemiology and Genetics; and Pathogenesis 8.1 Classification Criteria 8.2 Epidemiology and Genetics 8.2.1 Incidence and Prevalence 8.2.2 Sex 8.2.3 Age at Diagnosis 8.2.4 Major Histocompatibility Complex 8.2.5 Non-MHC 8.3 Pathogenesis References 9: Clinical Manifestations, Differential Diagnosis, and Laboratory Markers 9.1 Clinical Manifestations 9.2 Physical Examination 9.3 Laboratory: Role of Acute-Phase Response 9.4 Differential Diagnosis 9.5 Large-Vessel Vasculitis Mimickers in the Differential Diagnosis of TAK References 10: Imaging 10.1 CTA 10.2 MRA 10.3 FDG-PET 10.4 Ultrasonography 10.5 Conclusion References 11: Prognosis and Disease Activity 11.1 Disease Activity Assessment 11.1.1 Physical Examination in Clinical Activity Assessment 11.1.2 Laboratory in Disease Activity Assessment 11.1.3 Imaging in Disease Activity Assessment 11.1.4 Outcome Measures in Disease Activity Assessment 11.2 Prognosis 11.2.1 Disease Course 11.2.2 Damage Assessment in TAK 11.2.3 Mortality 11.3 Conclusion References 12: Treatment 12.1 Non-biologic Disease-Modifying Agents 12.1.1 Methotrexate 12.1.2 Azathioprine 12.1.3 Leflunomide 12.1.4 Mycophenolate Mofetil 12.1.5 Cyclophosphamide 12.1.6 Other Non-biologic Disease-Modifying Agents 12.2 Biologic Disease-Modifying Agents 12.2.1 Tumor Necrosis Factor Inhibitors 12.2.2 Tociluzumab 12.2.3 Rituximab 12.2.4 Other Biologic Disease-Modifying Agents 12.3 Vascular Interventions and Surgical Therapy 12.4 Conclusion References Part III: Polyarteritis Nodosa 13: Cutaneous Polyarteritis Nodosa 13.1 Introduction 13.2 Epidemiology, Genetics, Pathogenesis 13.3 Clinical Manifestations and Laboratory Markers 13.3.1 Clinical Manifestations 13.3.2 Laboratory Markers 13.4 Histopathology 13.5 Diagnosis and Differential Diagnosis 13.6 Treatment 13.7 Prognosis and Disease Activity References 14: Systemic Polyarteritis Nodosa 14.1 Introduction 14.2 Epidemiology 14.3 Etiopathogenesis 14.4 Clinical Manifestations and Laboratory Markers 14.4.1 Clinical Manifestations 14.4.2 Laboratory Markers 14.5 Histopathology 14.6 Diagnosis and Differential Diagnosis 14.7 Prognosis 14.8 Treatment References Part IV: Single Organ Vasculitis 15: Adult Primary Central Nervous System Vasculitis 15.1 Introduction 15.2 Diagnosis and Diagnostic Criteria 15.3 Histopathology 15.4 Clinical Manifestations and Laboratory Findings 15.5 PCNSV Subsets 15.6 Differential Diagnosis 15.7 Treatment 15.7.1 Mayo Clinic Cohort of Patients with Adult PCNSV 15.7.2 French Cohort of Patients with Primary Central Nervous System Vasculitis 15.7.3 Monitoring Disease Course References 16: Isolated Aortitis and Periaortitis 16.1 Introduction 16.2 Clinical Features and Diagnosis 16.2.1 Isolated Aortitis 16.2.2 Periaortitis 16.2.3 IgG4-Related Aortitis and Periaortitis 16.3 Treatment 16.4 Conclusions References 17: Isolated Gastrointestinal Vasculitis 17.1 Introduction 17.2 Epidemiology 17.3 Clinical Manifestations 17.4 Diagnosis 17.5 Differential Diagnosis 17.6 Management 17.7 Prognosis References 18: Cutaneous Vasculitis 18.1 Introduction 18.2 Nomenclature and Classification of Cutaneous Vasculitis 18.3 Clinical Spectrum of Cutaneous Vasculitis 18.4 Cutaneous Vasculitic Manifestations in Systemic Vasculitides with Predominant Organ Involvement Different from the Skin 18.4.1 Polyarteritis Nodosa 18.4.2 Anti-neutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis 18.4.2.1 MPA 18.4.2.2 GPA 18.4.2.3 EGPA 18.4.3 Immune Complex Small-Vessel Vasculitis 18.4.3.1 IgA Vasculitis (IgAV) 18.4.3.2 Cryoglobulinemic Vasculitis 18.4.3.3 Urticarial Vasculitis 18.5 Cutaneous Vasculitis Associated with Autoimmune Systemic Diseases 18.5.1 Rheumatoid Arthritis (RA) 18.5.2 Systemic Lupus Erythematous (SLE) 18.5.3 Primary Sjögren Syndrome (PSS) 18.6 Cutaneous Single-Organ Vasculitis (SOV) 18.6.1 Erythema Elevatum et Diutinum (EED) 18.6.2 Nodular Vasculitis (Erythema Induratum of Bazin) 18.6.3 Hypergammaglobulinemic Macular Vasculitis (Hypergammaglobulinemic Purpura of Waldenström) 18.7 Diagnostic Approach in a Patient Presenting with Cutaneous Vasculitis 18.8 Treatment of Cutaneous Vasculitis References 19: Single-Organ Genitourinary Vasculitis 19.1 Introduction 19.2 Gynecologic Single-Organ Vasculitis 19.3 Male Genital Tract Single-Organ Vasculitis 19.3.1 Testicles, Epididymis, and Spermatic Cords 19.3.2 Prostate, Seminal Vesicles, and Penis 19.4 Urinary Tract Single-Organ Vasculitis 19.4.1 Ureters 19.4.2 Urinary Bladder 19.4.3 Urethra 19.5 Conclusions References Part V: Arterial and Venous Involvement in Behçet’s Disease 20: Arterial and Venous Involvement in Behçet’s Disease 20.1 Epidemiology 20.2 Pathology 20.3 Pathophysiology 20.4 Clinical Features and Prognosis of Venous Involvement 20.4.1 Deep Vein Thrombosis of Lower Extremities 20.4.2 Venous Wall Thickness in Behçet’s Disease 20.4.3 Thrombosis of Superior and Inferior Vena Cava 20.4.4 Budd-Chiari Syndrome 20.4.5 Cerebral Sinus Thrombosis 20.5 Clinical Features and Prognosis of Arterial Involvement 20.5.1 Pulmonary Arterial Involvement 20.5.2 Peripheral Arterial Involvement 20.5.3 Cardiac Involvement 20.6 Imaging in Vascular Involvement of Behçet’s Disease 20.7 Diagnosis 20.8 Treatment 20.8.1 Medical Treatment 20.9 Anticoagulation 20.10 Surgical Treatment 20.11 Conclusion References Correction to: Isolated Gastrointestinal Vasculitis Correction to: C. Salvarani et al. (eds.), Large and Medium Size Vessel and Single Organ Vasculitis, Rare Diseases of the Immune System, https://doi.org/10.1007/978-3-030-67175-4_17 Index In this book, detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of large- and medium-sized vessel and single-organ vasculitis is provided and critically discussed by the most expert physicians and researchers in the field. Among the conditions considered are giant cell arteritis, Takayasu arteritis, polyarteritis nodosa, primary central nervous system vasculitis, isolated aortitis, isolated gastrointestinal vasculitis, cutaneous vasculitis and isolated genitourinary vasculitis. The role of histopathology in the diagnosis and prognosis of these vasculitis is evaluated, along with the part played by imaging studies in diagnosing and monitoring these diseases, while indications and limitations of the available imaging modalities are discussed as well. The expanding role of biological agents for the treatment of the large vessel vasculitis is addressed, as well as the current approaches to these diseases. This book will be a valuable companion in decision-making for medical practitioners, internists, specialists, researchers and postgraduate students interested in the intriguing fields of vasculitis and rare diseases.