Chest Imaging

Alpha-1-antitrypsin deficiency

well established as a factor playing a major role in the development of chronic obstructive pulmonary disease (COPD).

a-1-antitrypsin is a protein that blocks the destructive action of neutrophil elastase on lung elastin fibres. Imbalance of lung proteases and antiproteases probably plays a role in the development of emphysema. Individuals with a homozygous deficiency who also smoke have a greatly increased risk of developing severe panlobular emphysema before the age of 35. Such a homozygous deficiency accounts for less than 1% of COPD.

Bronchiectasis, particularly in the lower lobes, is encountered in a few patients with a-1-antitrypsin deficiency (Fig.1). As a result, the diagnosis of a1-antitrypsin deficiency should be considered in patients with emphysema and diffuse cystic bronchiectasis.

PG - MB

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Fig.1

-1-antitrypsin deficiency in a young woman. a) Chest radiograph showing diffuse overinflation. b) High resolution CT showing diffuse panlobular emphysema associated with bilateral distal bronchiectasis.
Alpha-1-antitrypsin deficiency, Fig.1 (a)
Alpha-1-antitrypsin deficiency, Fig.1 (b)