CTICasesAlpha-1 Antitrypsin Deficiency with Basilar-Predominant Panlobular Emphysema
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Imaging findings
Chest CT shows severe panlobular emphysema that is classic in its basilar-predominant distribution. Several large bullae and cysts are present at the lung bases, mixed with mild cylindrical bronchiectasis. The patient has a history of smoking and was found to have alpha-1 antitrypsin deficiency during workup for a newly discovered hepatocellular carcinoma.
Key takeaways
Alpha-1 antitrypsin deficiency is an inherited metabolic disorder that leads to premature, severe panlobular emphysema with a characteristic basilar predominance, often accelerated by smoking. In addition to emphysema, patients can develop bronchiectasis and basilar bullae, and are at high risk for liver disease, including cirrhosis and hepatocellular carcinoma.
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