Alpha-1-antitrypsin deficiency

Case contributed by Rachael O'Rourke
Diagnosis certain


Patient presented with left upper lobe pneumonia and was noted to have 'cysts' on preliminary imaging performed at another center. Following treatment, further dedicated HRCT performed to investigate for underlying ILD.

Patient Data

Age: 30 years
Gender: Male

No discernible emphysema, bronchiectasis or air trapping on plain radiograph. 

Bilateral confluent regions of pan lobular emphysema are interspersed between normal lung, which is more predominant within the lower lobes. No pulmonary cysts are identified. Associated bilateral lower lobe bronchiectasis.

Case Discussion

Alpha-1-antitrypsin deficiency is often diagnosed in middle aged patients with early onset lower lobe predominant emphysema and accompanying bronchiectasis. Early on the disease is asymptomatic and often not detected. This is a nice case showing the appearance of the disease in a young patient, with no apparent changes on plain radiograph. The important CT features of the case are:

  • lack of walls/ cysts, hence this is not cystic lung disease
  • destruction of airspaces with a lower lobe predominance and preservation of underlying vessels and connective tissue stroma
  • bilateral lower lobe bronchiectasis.

The diagnosis was proven via genotyping.

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