Rare Diseases of the Immune System Series Editors: Lorenzo Emmi · Domenico Prisco Renato Alberto Sinico Loïc Guillevin E ditors Anti-Neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis Rare Diseases of the Immune System Series Editors: Lorenzo Emmi Domenico Prisco Editoria Board: Systemic Vasculitis Primary Immunodeficiency L. Emmi A. Plebani C. Salvarani C. T. Baldari R. A. Sinico M. M. D’Elios Autoimmune Disease Systemic Fibroinflammatory Disorders P. L. Meroni A. Vaglio D. Roccatello M. Matucci Cerinic L. Emmi Autoinflammatory Syndromes M. Gattorno F. De Benedetti R. Cimaz Nuvole sul mare, Laura Maddii Emmi (Private collection) Renato Alberto Sinico • Loïc Guillevin Editors Anti-Neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis Editors Renato Alberto Sinico Loïc Guillevin Department of Medicine and Surgery Department of Medicine University of Milano-Bicocca Paris Descartes University Hospital Cochin Monza Paris Monza e Brianza France Italy ISSN 2282-6505 ISSN 2283-6403 (electronic) Rare Diseases of the Immune System ISBN 978-3-030-02238-9 ISBN 978-3-030-02239-6 (eBook) https://doi.org/10.1007/978-3-030-02239-6 © Springer Nature Switzerland AG 2020 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Dedicated to my family. Acknowledgements We would like to thank all the prestigious colleagues and researches from around the world and from different disciplines for the invaluable contribution to this book. Without their help this book would not have been possible. vii Contents Part I ANCA-Associated Vasculitis 1 Introduction: Nomenclature and Classification . . . . . . . . . . . . . . . . . . . 3 J. Charles Jennette and Ronald J. Falk 2 Genetics of ANCA-Associated Vasculitis . . . . . . . . . . . . . . . . . . . . . . . . . 19 Federico Alberici, Paul Anthony Lyons, and Davide Martorana 3 Etiopathogenesis of ANCA-Associated Vasculitis . . . . . . . . . . . . . . . . . 33 Delphine Sterlin, Alexis Mathian, and Makoto Miyara 4 ANCA: Methods and Clinical Significance . . . . . . . . . . . . . . . . . . . . . . 47 Elena Csernok and Antonella Radice 5 Activity and Damage . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 57 Raashid A. Luqmani 6 Eosinophilic Granulomatosis with Polyangiitis (EGPA, Churg–Strauss) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77 Yann Nguyen and Loïc Guillevin 7 Granulomatosis with Polyangiitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 97 Christian Pagnoux 8 Microscopic Polyangiitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131 Renato Alberto Sinico, Filippo Maria Sala, Maria Rosa Pozzi, Paolo Fabbrini, and Federico Pieruzzi Part II Vasculitis/Organs Involvement 9 ANCA-Associated Vasculitis—ENT Involvement . . . . . . . . . . . . . . . . . 147 Trimarchi Matteo, Galli Andrea, and Roberto Teggi 10 Lung Involvement in ANCA-Associated Vasculitis . . . . . . . . . . . . . . . . 163 Marta Casal Moura and Ulrich Specks ix x Contents 11 Kidney Involvement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 177 Renato Alberto Sinico, Fabio Pagni, Vincenzo L’Imperio, Valentina Binda, Paolo Fabbrini, Federico Pieruzzi, and Gabriella Moroni 12 Peripheral Nervous System Involvement . . . . . . . . . . . . . . . . . . . . . . . . 193 Michael P. Collins and P. James B. Dyck 13 Central Nervous System Involvement in ANCA-Associated Vasculitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 239 Hubert de Boysson 14 Skin Involvement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 251 Angelo Valerio Marzano, Simona Tavecchio, and Emilio Berti 15 Miscellaneous Organ Involvement in ANCA-Associated Vasculitis . . . 269 Giorgio Trivioli and Augusto Vaglio 16 Prognosis and Outcomes of ANCA- Associated Vasculitis . . . . . . . . . . . 293 David Jayne 17 Treatment of ANCA-Associated Vasculitides . . . . . . . . . . . . . . . . . . . . . 313 Loïc Guillevin, Loïc Raffray, Yann Nguyen, Benjamin Chaigne, and Benjamin Terrier Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 329 Part I ANCA-Associated Vasculitis