Pathology: Alpha-1 antitrypsin deficiency

A 48 year old male was found to have abnormal transaminase levels of uncertain etiology.  In addition, he had emphysematous changes in the lower lung fields (contrary to those found in the upper lung fields of heavy smokers).  His alpha-1 antitrypsin level was normal, and testing revealed a Pi-ZZ phenotype.

Liver biopsy was performed, and pink, PAS-positive, intracytoplasmic globules were discovered (see image).  Bear in mind that this finding is seen in other conditions, like the glycogenosis of diabetic hepatopathy, and glycogen storage diseases.

The best way to distinguish alpha-1 AT deficiency from the remaining differential diagnosis is to add diastase to the biopsy specimen: diastase will dissolve the proteinaceous globule in all cases except for alpha-1 antitrypsin.  Therefore, if the pink globules remain in place after addition of diastase, you have your diagnosis.

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