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Heterozygous alpha 1-antitrypsin deficiency: a longitudinal lung function study

F A de Hamel, R W Carrell

    The New Zealand Medical Journal
    |December 9, 1981
    PubMed
    Summary
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    Individuals with alpha-1 antitrypsin (AAT) deficiency heterozygote phenotypes (Pi MS and Pi MZ) show no lung function decline. This study confirms that these AAT deficiency heterozygotes can expect normal respiratory health.

    Area of Science:

    • Pulmonology
    • Genetics
    • Epidemiology

    Background:

    • Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that can lead to severe lung disease.
    • Heterozygote carriers of AAT deficiency alleles (Pi MS and Pi MZ) are more common than severe deficiency homozygotes.
    • The impact of heterozygote AAT deficiency on lung function is not fully understood.

    Purpose of the Study:

    • To investigate the long-term effects of Pi MS and Pi MZ phenotypes on lung function.
    • To compare lung function in AAT heterozygotes with the normal Pi M phenotype.
    • To provide evidence for genetic counseling regarding respiratory health in AAT heterozygotes.

    Main Methods:

    • Phenotyping for alpha-1 antitrypsin was performed on 906 adult community members.

    Related Experiment Videos

  • Lung function (FVC, FEV1) was assessed cross-sectionally and longitudinally over three years.
  • Multivariate analysis and matched pair techniques were used, controlling for age, sex, height, race, smoking, and respiratory symptoms.

    • Main Results:

    • 4.9% of the population were Pi MZ heterozygotes and 8% were Pi MS heterozygotes.
    • No significant deterioration in lung function (FVC, FEV1) was observed in Pi MS or Pi MZ subjects compared to Pi M subjects.
    • While minor alveolar abnormalities cannot be entirely excluded, significant lung function impairment was not detected.

    Conclusions:

    • Pi MS and Pi MZ alpha-1 antitrypsin phenotypes are not associated with a decline in lung function.
    • Individuals with these AAT heterozygote phenotypes can be reassured about their long-term respiratory health.
    • The study supports confident genetic counseling for AAT heterozygotes regarding their pulmonary outlook.