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Alpha-1 Antitrypsin Deficiency: a Rare Disease?

  • Immune Deficiency and Dysregulation (C Kuo, Section Editor)
  • Published:
Current Allergy and Asthma Reports Aims and scope Submit manuscript

A Correction to this article was published on 12 September 2020

This article has been updated

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.

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Change history

  • 12 September 2020

    The original version of this article contained errors in Table 3 on page 6.

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  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

    Roxana Cortes-Lopez & Igor Barjaktarevic

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  1. Roxana Cortes-Lopez
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Dr. Barjaktarevic reports grants and personal fees from GE Healthcare, Asta Zeneca, personal fees from GSK, grants and personal fees from Theravance, grants and personal fees from Mylan, grants from Amgen, personal fees from Boehringer Ingelheim, personal fees from Verona Pharma, personal fees from Grifols, and personal fees from CSL Behring, outside the submitted work. Dr. Cortes Lopez reports travel reimbursement from Vertex Pharmaceuticals.

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Cortes-Lopez, R., Barjaktarevic, I. Alpha-1 Antitrypsin Deficiency: a Rare Disease?. Curr Allergy Asthma Rep 20, 51 (2020). https://doi.org/10.1007/s11882-020-00942-4

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