Alpha-1 Antitrypsin Deficiency: a Rare Disease?
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IMMUNE DEFICIENCY AND DYSREGULATION (C KUO, SECTION EDITOR)
Alpha-1 Antitrypsin Deficiency: a Rare Disease? Roxana Cortes-Lopez 1 & Igor Barjaktarevic 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review Commonly categorized as a rare disease, alpha-1 antitrypsin deficiency (AATD) is neither rare, when compared to many other genetic disorders, nor an actual disease, but rather a predisposition toward a wide variety of diseases. It is one of the most common genetic disorders which can lead to a spectrum of clinical manifestations, ranging from no symptoms to progressively debilitating systemic disease, most commonly affecting the lung and liver. It is therefore imperative for clinicians to recognize and be familiar with the spectrum of presentations, methods of diagnosis, and clinical management of AATD. It is also imperative for scientists to recognize the potential for progress in the management of this disorder. Recent Findings This review focuses on the current state of knowledge of AATD, including the wide range of presentations, diagnosis, and clinical management. In addition to the clinical implications of severe AATD, we discuss the relevance of heterozygous state with mild or moderate AATD in the development of both lung and liver disease. While our understanding of the multiple roles of alpha-1 antitrypsin (AAT) is on the rise, with appreciation of its immunomodulatory, anti-infective, and anti-inflammatory properties, this knowledge has yet to impact our ability to predict outcomes. We discuss nuances of augmentation therapy and review novel therapeutic approaches currently under investigation. Summary With the expanding knowledge about the complexities of AAT function and its clinical relevance, and with the increasing ability to diagnose early and intervene on AATD, it should be our goal to change the perception of AATD as a correctable inherited disorder rather than a fatal disease. Keywords Alpha-1 antitrypsin deficiency . Augmentation therapy . Emphysema . SERPINA1 . Protease inhibitor . Chronic obstructive pulmonary disease . PiZZ
Introduction Alpha-1 antitrypsin deficiency (AATD) is a hereditary genetic disorder that can lead to lung and liver disease due to decreased circulating levels of alpha-1 antitrypsin (AAT) and accumulation of AAT within the liver, respectively. Since its identification in the 1960s by Laurell and Eriksson [1], there have been many advances in the diagnosis and medical management of AATD. Despite a heightened awareness of this clinical entity, it still remains an infrequently diagnosed disorder. Its clinical presentation is highly variable and often This article is part of the Topical Collection on Immune Deficiency and Dysregulation * Igor Barjaktarevic [email protected] 1
Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, CHS, Los Angeles, CA 90095, USA
mimics other more common diseases making it difficult to diagnose. However, its prompt diagnosi
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