N Engl J Med 1981 Mar 5;304(10):557-60

Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic activ
hepatitis and cryptogenic cirrhosis

Hodges JR, Millward-Sadler GH, Barbatis C, Wright R

Abstract
To determine the prevalence of alpha 1-antitrypsin deficiency in patients with
cirrhosis or chronic active hepatitis, we performed a five-year prospective
study of liver-biopsy specimens from 1055 adults. Thirty-four patients whose
specimens contained hepatocyte inclusions characteristic of the deficiency were
phenotyped, and 25 had phenotype MZ (2.4 per cent). The distribution of patients
with this phenotype among the 185 patients with cirrhosis diagnosed
histologically was three of 84 patients with alcoholic cirrhosis (3.5 per cent),
seven of 34 with non-B chronic active hepatitis (20.5 per cent), six of 28 with
cryptogenic cirrhosis (21 per cent), and one of 39 with other kinds of cirrhosis
(2.6 per cent). The increased prevalence of MZ in patients with cryptogenic
cirrhosis and with chronic active hepatitis is highly significant (P < 0.001).
Because serum levels of alpha 1-antitrypsin may be unreliable for identification
of the subgroup of patients with chronic active hepatitis or cryptogenic
cirrhosis, analysis of serum for the MZ phenotype and meticulous examination of
biopsy specimens may be necessary