Guidelines
Guidelines Summary
Indications for diagnostic testing for alpha1-antitrypsin deficiency (AATD) as per the American Thoracic Society and the European Respiratory Society are as follows [5, 17] :
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Symptomatic adults with emphysema, chronic obstructive pulmonary disease (COPD), or asthma with airflow obstruction that is incompletely controlled after aggressive treatment with bronchodilators
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Individuals with unexplained liver disease, including neonates, children, adults, and older adults
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Asymptomatic individuals with persistent obstruction on pulmonary function tests (PFTs) with identifiable risks factors (eg, smoking, occupational exposure)
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Adults with necrotizing panniculitis
Management recommendations are as follows:
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The use of intravenous augmentation therapy for individuals with established airflow obstruction from AATD
General management of obstructive lung disease are as follows:
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AAT repletion
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Inhaled bronchodilators
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Vaccinations against influenza and Pneumococcus to prevent infections
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Supplemental oxygen when indicated by conventional criteria
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Pulmonary rehabilitation for individuals with functional impairment
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Consideration of lung transplantation for selected individuals with severe functional impairment and airflow obstruction
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During acute exacerbations of COPD, AAT repletion should be included
The Spanish Society of Pneumology and Thoracic Surgery (SEPAR) recommends the following [13] :
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All COPD patients should be screened for AATD at least once in their lifetime
Media Gallery
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Close-up chest radiograph of the right lower zone of a 39-year-old woman with alpha1-antitrypsin deficiency (AATD). Normal lung markings are absent in the costophrenic angle. Some lung markings are present in the pericardiac region, but even these are diminished.
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CT scan of the right middle and right lower lobes in a 38-year-old patient with alpha1-antitrypsin deficiency (AATD). Entire middle lobe and much of the lower lobe are emphysematous; normal lung structures have been replaced by abnormal airspaces. Only the posterior portions of the right lower lobe maintain a normal architecture.
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Graph outlines alpha1-antitrypsin levels and risk of lung disease for the 5 most common phenotypes of alpha1-antitrypsin deficiency (AATD). Dashed line at 11 mmol/L (80 mg/mL) represents the threshold level below which emphysema is common.
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Breath sound assessment. Video courtesy of Therese Canares, MD, and Jonathan Valente, MD, Rhode Island Hospital, Brown University.
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