Chest

Chest

Volume 71, Issue 4, April 1977, Pages 535-538
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Alpha1-Antitrypsin Deficiency with Diffuse Bronchiectasis and Cirrhosis of the Liver

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The medical literature has emphasized repeatedly the association of a1-antitrypsin deficiency with panacinar emphysema and cirrhosis of the fiver. Previous reports have linked bronchiectasis with a1-antitrypsin deficiency. The present case confirms this association and adds the presence of an hepatic abnormality characteristic of a1-antitrypsin deficiency to complete the syndrome. The patient's phenotype was found to be “Duarte”. It has been suggested that patients with diffuse bronchiectasis should be screened for a1-antitrypsin deficiency. We would add that a complete assessment of hepatic function, including liver biopsy, should be carried out in those individuals with reduced levels of a1-antitrypsin.

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CASE REPORT

A 53-year-old white man was admitted to the hospital with complaints of increasing headache, fatigue, somnolence, dyspnea on exertion, and productive cough. He gave a past history of repeated respiratory infections since the age of 13. The patient had smoked cigarettes for 30 pack-years but had stopped smoking at the age of 45. He had consumed alcoholic beverages in moderate amounts for 20 years. There was no history of blood transfusion. Physical examination revealed a dyspneic man with

DISCUSSION

Alpha1-antitrypsin is capable of inhibiting the action of a number of proteolytic enzymes. It protects the lung from the effect of elastolytic enzymes released by disintegrating neutrophils and alveolar macrophages associated with infections.16 The present patient gave a history of recurrent episodes of respiratory infections since childhood and exhibited a deficiency of a1-antitrypsin. Bronchiectasis was suggested by the clinical history and physical findings, and it was documented by

ACKNOWLEDGMENT

Phenotyping studies were done through the courtesy of R. M. Iammarino, M.D., of the Clinical Laboratory, University Health Center of Pittsburgh; and studies for verification were performed in the laboratory of Richard Talamo, M.D., of Johns Hopkins University, Baltimore.

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Copyright © 1977 The American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.