Alpha-1 antitrypsin deficiency - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder with an autosomal inheritance pattern and codominant expression of alleles.
Allele mutations cause ineffective activity of alpha-1 antitrypsin, the enzyme responsible for neutralizing neutrophil elastase.
Pulmonary and hepatic manifestations include emphysema, COPD, bronchiectasis, and cirrhosis.
Granulomatosis with polyangiitis (formerly known as Wegener granulomatosis) and necrotizing panniculitis are infrequent complications but can prompt diagnosis.
Plasma AAT levels, protein phenotyping (called PI-typing), and genotyping may be necessary for diagnosis. Rare alleles may require gene sequencing.

Chest x-ray of AAT deficiency (PA view)

From the personal collection of D. Kyle Hogarth, MD, FCCP

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Definition

Epidemiology

Etiology

Pathophysiology

Images

Chest x-ray of AAT deficiency (PA view)
Chest x-ray of AAT deficiency (lateral view)
CT of advanced emphysema in AATD patient

Citations

Key Articles

American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.[Abstract][Full Text]
Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.[Full Text]
Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012 Mar-Apr;19(2):109-16. [Abstract][Full Text]
Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.[Abstract][Full Text]
Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.[Abstract][Full Text]

Referenced Articles

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