CTICasesAlpha-1 Antitrypsin Deficiency with Panacinar Emphysema and Lower Lobe Bronchiectasis
Imaging findings
A 51-year-old male smoker presented with severe panacinar emphysema, predominantly in the upper lobes, combined with severe lower lobe bronchiectasis. His alpha-1 antitrypsin levels were previously reported as borderline normal. The patient was also under care by a hepatologist.
Key takeaways
Alpha-1 antitrypsin deficiency is a genetic disorder typically causing panacinar emphysema, often severe and at a young age. While different mutations are thought to cause either emphysema or bronchiectasis, the combination of both severe panacinar emphysema and lower lobe bronchiectasis, especially in a younger patient, strongly suggests an underlying alpha-1 antitrypsin deficiency, even with borderline normal initial levels. Liver involvement (cirrhosis) is also associated with this condition.
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