Alpha 1-antitrypsin deficiency presenting as cryptogenic cirrhosis in adults over 50.
We report cirrhosis and alpha 1-antitrypsin deficiency in two patients over 50 years of age who had an initial diagnosis of cryptogenic cirrhosis. Serum alpha 1-antitrypsin levels were in the homozygous range and a liver biopsy demonstrated cirrhosis with periodic acid-Schiff-positive, diastase-resistant globules in both. Red intracytoplasmic inclusion globules seen on trichrome staining in the first patient, and a decreased alpha-1 fraction on serum protein electrophoresis in the second suggested the diagnosis. We propose that the diagnosis of alpha 1-antitrypsin deficiency be considered in all patients, regardless of age, and that trichrome staining be part of the routine histologic evaluation in all patients with cirrhosis of uncertain etiology.
D000367:Age Factors; D000368:Aged; D001391:Azo Compounds; D004396:Coloring Agents; D003937:Diagnosis, Differential; D004801:Eosine Yellowish-(YS); D006801:Humans; D007124:Immunoenzyme Techniques; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D008297:Male; D008739:Methyl Green; D008875:Middle Aged; D019896:alpha 1-Antitrypsin Deficiency
D001391:Azo Compounds; D004396:Coloring Agents; C017768:trichrome stain; D008739:Methyl Green; D004801:Eosine Yellowish-(YS)