What is 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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Answer

AATD is a relatively common genetic condition, which often goes undiagnosed. People with AATD are predisposed to obstructive pulmonary disease and liver disease (eg, cirrhosis and hepatocellular carcinoma in children and adults). [1, 2, 3] AATD is one of the most common inherited disorders among white persons. Its primary manifestation is early-onset panacinar emphysema. About 1-5% of patients with diagnosed chronic obstructive pulmonary disease (COPD) are estimated to have alpha1-antitrypsin deficiency. [4] Although extremely rare, emphysema in children with AATD has been reported. [3] The incidence of liver disease increases with age. [3]

Slowly progressive dyspnea is the primary symptom, though many patients initially have symptoms of cough, sputum production, or wheezing. Treatment involves smoking cessation, preventive vaccinations, bronchodilators, supplemental oxygen when indicated, and physical rehabilitation in a program similar to that designed for patients with smoking-related COPD. In addition, intravenous (IV) augmentation therapy with alpha1-antitrypsin benefits some patients.


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