Alpha 1 antitrypsin deficiency

Case contributed by Assoc Prof Craig Hacking

Presentation

Worsening dyspnea on exertion. No infective symptoms.

Patient Data

Age: 55 years
Gender: Female
X-ray

Increased lung volumes with symmetric hyperlucency in the lower zones. Thick verticle band of plate atelectasis in the left 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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Case information

rID: 73292
Published: 6th Jan 2020
Last edited: 7th Jan 2020
System: Chest
Inclusion in quiz mode: Included

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