A 55-year-old man with emphysema and unexplained cirrhosis undergoes liver biopsy. Histology shows periodic acid-Schiff positive, diastase-resistant eosinophilic globules within hepatocytes, most prominent near portal tracts, accompanied by portal fibrosis. Serum testing would most likely show:
- A High ferritin with C282Y homozygosity
- B Low alpha-1 antitrypsin level with PiZZ phenotype ✓
- C Positive anti-mitochondrial antibody with high IgM
- D Elevated ceruloplasmin with Kayser-Fleischer rings
Correct answer: B. Low alpha-1 antitrypsin level with PiZZ phenotype
Explanation
The PAS positive, diastase-resistant hepatocellular globules represent misfolded alpha-1 antitrypsin retained in endoplasmic reticulum of hepatocytes, seen in the PiZZ genotype of alpha-1 antitrypsin deficiency, which also causes early panacinar emphysema. Serum level is low. Haemochromatosis gives iron deposition with high ferritin, PBC gives florid duct lesions with AMA, and Wilson disease lowers ceruloplasmin rather than raising it, so the other options do not fit either the histology or the lung disease.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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