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

J R Hodges, G H Millward-Sadler, C Barbatis

    The New England Journal of Medicine
    |March 5, 1981
    PubMed

    Insights

    Alpha 1-antitrypsin deficiency (AATD) is more common in patients with cirrhosis or chronic active hepatitis. The MZ phenotype, a common AATD variant, was found in 2.4% of patients, particularly those with cryptogenic cirrhosis or chronic active hepatitis.

    Area of Science:

    • Hepatology
    • Genetic Liver Diseases
    • Pulmonology

    Background:

    • Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder that can lead to liver and lung disease.
    • Cirrhosis and chronic active hepatitis are serious liver conditions with various underlying causes.

    Purpose of the Study:

    • To investigate the prevalence of AATD in patients diagnosed with cirrhosis or chronic active hepatitis.
    • To identify specific liver disease subtypes associated with a higher incidence of AATD.

    Main Methods:

    • A five-year prospective study involving 1055 adult liver-biopsy specimens.
    • Histological examination of biopsy specimens to identify hepatocyte inclusions characteristic of AATD.
    • Phenotyping of 34 patients with characteristic inclusions to determine AATD genotypes, focusing on the MZ phenotype.

    Main Results:

    • The MZ phenotype of AATD was identified in 2.4% (25/1055) of the total patient cohort.
    • A significantly higher prevalence of the MZ phenotype was observed in patients with cryptogenic cirrhosis (21%) and non-B chronic active hepatitis (20.5%) compared to alcoholic cirrhosis (3.5%) or other cirrhosis types (2.6%).
    • Statistical analysis confirmed a highly significant association (P < 0.001) between the MZ phenotype and cryptogenic cirrhosis/chronic active hepatitis.

    Conclusions:

    • The MZ phenotype of alpha 1-antitrypsin deficiency is significantly more prevalent in patients with cryptogenic cirrhosis and chronic active hepatitis.
    • Relying solely on serum AAT levels may underestimate AATD in these specific patient groups.
    • Meticulous examination of liver biopsy specimens and serum phenotyping are crucial for accurate AATD diagnosis in patients with cryptogenic cirrhosis and chronic active hepatitis.

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