Alpha 1 antitrypsin deficiency

Case contributed by Craig Hacking
Diagnosis certain


Worsening dyspnea on exertion. No infective symptoms.

Patient Data

Age: 55 years
Gender: Female

Increased lung volumes with symmetric hyperlucency in the lower zones. Thick vertical band of plate atelectasis in the right lower zone. Pleural spaces are clear. Cardiomediastinal contours are normal.

Case Discussion

Given the findings of basal emphysema, alpha 1 antitrypsin deficiency was suspected and LFTs were subsequently derranged. The patient had confirmation of the disease with low serum alpha 1 antitrypsin (AAT) levels and genetic testing revealed SZ genotype.

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