Contents Preface v Guest Editors vii Introduction ix List of abbreviations xii 1. Patient view 1 Marion Wilkens and Terry Hannah 2. Serpinopathies 6 David A. Lomas, James A. Irving and Bibek Gooptu 3. Genetics and epidemiology 27 Brian D. Hobbs, Edwin K. Silverman and Michael H. Cho 4. Laboratory diagnosis 39 Ilaria Ferrarotti and Stefania Ottaviani 5. Mechanisms of lung disease 52 Cesare Saltini and Karina Krotova 6. Clinical approach to diagnosis and assessment 64 Miriam Barrecheguren, Robert Bals and Marc Miravitlles 7. Treatment of lung disease 78 Paul Ellis, Asger Dirksen and Alice M. Turner 8. Mechanisms of liver disease 93 Pasquale Piccolo, Sergio Attanasio and Nicola Brunetti-Pierri 9. Clinical approach to paediatric liver disease 105 Jeffrey H. Teckman and Dhiren Patel 10. Clinical approach to liver disease in adults 114 Pavel Strnad, Carolin V. Schneider and Virginia Clark 11. Rare manifestations 127 Alessandro N. Franciosi, Tomás P. Carroll and Noel G. McElvaney ERS monograph a1-Antitrypsin Deficiency Number 85 September 2019