IMPORTANT: We currently have a number of bugs related to image cropping and are actively trying to resolve them. In the meantime, we have disabled cropping. Apologies for any inconvenience. Stay informed: radiopaedia.org/chat

Alpha 1 antitrypsin deficiency

Case contributed by Craig Hacking
Diagnosis certain

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 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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.