What are the approach considerations in the workup of alpha1-antitrypsin deficiency (AATD)?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Despite being a relatively common disease, AAT deficiency (AATD) is frequently underrecognized, with only approximately 15% of the population with AATD having been diagnosed with this disease. [5] Limited knowledge about the disease as well as lack of adherence to screening guidelines for those symptomatic patients presenting with fixed airflow obstruction are considered to have a negative impact in the early and opportune diagnosis of AATD. [13]

Greulich et al in 2016 found an increase in the detection of AATD in patients with COPD, emphysema, and/or bronchiectasis by raising awareness on the availability of current diagnostic tests. [14]

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