Patients with alpha-1-antitrypsin deficiency may develop chronic obstructive pulmonary disease (COPD) and/or cirrhosis without exposure to known external risk factors. Testing for serum deficiency of the protein is indicated if certain findings are identified in the patient history.


Findings in family history:

(1) family history of alpha-1-antitrypsin deficiency

(2) family history of COPD with onset before 50 years of age


Findings in the liver:

(1) cirrhosis with no apparent risk factors


Findings in the lung:

(1) chronic bronchitis with airflow obstruction in someone who has never smoked

(2) bronchiectasis in someone without an apparent risk factor

(3) premature onset of COPD before the age of 50, with moderate to severe impairment

(4) emphysema with a predominantly basilar pattern

(5) presence of unremitting asthma


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