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Longitudinal lung function study in heterozygous PiMZ phenotype subjects

E Tarján1, P Magyar, Z Váczi

  • 1Dept of Pulmonology, Semmelweis Medical University, Budapest, Hungary.

The European Respiratory Journal
|December 1, 1994
PubMed
Summary

Individuals with alpha-1-antitrypsin deficiency (PiMZ) show increased risk for pulmonary emphysema. A 10-year study found significant lung function decline in PiMZ subjects, suggesting a risk factor for early-onset emphysema.

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Area of Science:

  • Pulmonology
  • Genetics
  • Pathophysiology

Background:

  • Alpha-1-antitrypsin deficiency (AATD) is a genetic condition.
  • The role of heterozygous (PiMZ) AATD in pulmonary emphysema development is debated.
  • Understanding PiMZ phenotype's impact on lung health is crucial.

Purpose of the Study:

  • To investigate the 10-year longitudinal changes in lung function in PiMZ individuals.
  • To compare lung function parameters between PiMZ and normal PiMM subjects.
  • To determine if the PiMZ phenotype is a risk factor for pulmonary emphysema.

Main Methods:

  • A 10-year follow-up study comparing 28 PiMZ subjects with 28 matched PiMM controls.
  • Assessment of maximal expiratory flows and lung mechanical properties.

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  • Measurement of lung function parameters including total lung capacity, residual volume, FEV1, and diffusing capacity.

    • Main Results:

    • PiMZ subjects exhibited increased total lung capacity and residual volume over 10 years.
    • Significant decreases in expiratory flows, FEV1, diffusing capacity, and lung elasticity were observed in PiMZ patients.
    • Trypsin inhibitory capacity was markedly lower in PiMZ individuals compared to PiMM controls.
    • Functional parameter deterioration in PiMZ exceeded age-related physiological changes.

    Conclusions:

    • The PiMZ phenotype is associated with significant lung function decline.
    • Reduced lung elasticity in PiMZ subjects indicates primary pathophysiological damage.
    • The PiMZ phenotype is a risk factor for developing pulmonary emphysema at a younger age.