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α1-antitrypsin deficiency

Case contributed by Charlie Chia-Tsong Hsu
Diagnosis certain

Presentation

75 year old male with 20 pack year history of smoking. No reported history of occupational exposure.

Patient Data

Age: 75 years
Gender: Male
ct

HRCT and coronal reformat (lung window) shows bilateral lower-lobe panlobular emphysema consistent with known history of  alpha1-antitrypsin deficiency. 

Case Discussion

Although this case demonstrate the familiar imaging appearance of alpha1-antitrypsin deficiency, the disease can have a range of imaging manifestations including upper-lobe-predominant emphysema and emphysema with cystic bronchiectasis.1,2  Disease severity is multi-factorial influenced by genotype/phenotype, serum level of alpha1-antitrypsin and compounded by smoking/ocupational exposure .1,2 

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