Alpha-1-antitrypsin deficiency (AATD) is a heterogeneous disease that affects more than just the lungs and, like all chronic diseases, is associated with a particular psychological burden for those affected. Lung diseases associated with AATD include early-onset emphysema, asthma and bronchiectasis. There is also an increased risk of developing liver disease, the diagnosis of which is becoming increasingly important as specific treatment options are at an advanced stage of development. Other manifestations of AAT affect the skin and kidneys, so patients require a multidisciplinary approach to diagnosis and treatment.