Alpha-1 Anti-Trypsin Deficiency

This is a genetic disorder in the production of a variety of anti-proteases with the gene locus present in chromosome 14. The most severely affected patients will generally be homozygous for the abnormal gene. There is a clinical spectrum of severity even in patients who are heterozygous.

The patients present at an early age with cirrhosis and lung disease.  The lung disease is characterized histologically as a panacinar emphysema and typically involves the lower lungs.

The CXR shows the typical signs of hyperinflation in the lower lungs only and is distinct from the centrolobular emphysema typically seen in older patients who smoke.

Clinical and Radiologic Clues:

Alpha-1 Antitrypsin Deficiency: young patient, no smoking history, panacinar lower lung changes
           
“Pink Puffer”: older patient, typically smokers, upper lung, centro-lobular emphysema

"Aunt Sophies":

Rare: lower lung bullous disease, lower lung hyperinflation due to marked upper lung disease eg. TB