Fatal liver disease associated with α1-antitrypsin deficiency PiM1/PiMduarte

A 53-yr-old man with a rare form of partial α 1 antitrypsin deficiency, PiM 1 /PiM duarte , died of endstage cirrhosis. Typical cytoplasmic α 1 -antitrypsin globules were present in the hepatocyte cytoplasm-Initial protease inhibitor phenotyping on the patient was reported as normal PiM 1 in more than one laboratory. This case emphasizes the diagnostic importance of α 1 -antitrypsin and illustrates the point that protease inhibitor phenotyping without family genotyping may be misleading in heterozygous patients with liver disease.