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Lung function in 30-year-old alpha-1-antitrypsin-deficient individuals

Elisabeth Bernspång1, Per Wollmer, Tomas Sveger

  • 1Department of Respiratory Medicine, Lund University, University Hospital, Entrance 35, SE-205 02 Malmö, Sweden. elisabeth.bernspang@med.lu.se

Respiratory Medicine
|February 3, 2009
PubMed

Insights

Alpha-1-antitrypsin (AAT) deficiency screening in newborns identified individuals with severe (PiZZ) and moderate (PiSZ) deficiency. At age 30, PiZZ smokers showed early signs of emphysema, indicating AAT deficiency impacts lung function in smokers.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Public Health

Background:

  • Alpha-1-antitrypsin (AAT) deficiency is a genetic risk factor for emphysema, particularly in smokers.
  • Neonatal screening for AAT deficiency (PiZZ, PiSZ) in Sweden since 1972-1974 allows for long-term follow-up.
  • Individuals with AAT deficiency were compared to non-deficient controls (PiMM) and by smoking status.

Purpose of the Study:

  • To evaluate lung function at age 30 in individuals with severe (PiZZ) and moderate (PiSZ) AAT deficiency.
  • To compare lung function between smokers and never-smokers within the AAT-deficient population.
  • To assess the impact of AAT deficiency on lung health in young adults.

Main Methods:

  • Longitudinal study of individuals identified through neonatal screening for AAT deficiency.
  • Pulmonary function tests including spirometry (TLC, FRC, RV, VC, FEV1), KCO, and DLCO were performed.
  • Comparison of lung function parameters (as % of expected) between AAT-deficient genotypes (PiZZ, PiSZ) and controls (PiMM), stratified by smoking status.

Main Results:

  • All AAT-deficient groups exhibited normal mean FEV1 at age 30.
  • PiZZ smokers demonstrated significantly lower FEV1/VC ratios (75% vs. 84%) compared to PiZZ never-smokers (p<0.01).
  • PiZZ smokers showed significantly reduced KCO (81 vs. 99) compared to PiZZ never-smokers (p<0.05), suggesting early emphysematous changes.

Conclusions:

  • Neonatal screening identifies individuals with AAT deficiency who have normal lung function at age 30.
  • Smoking exacerbates lung function decline in individuals with PiZZ AAT deficiency, presenting as early emphysema.
  • Early identification and smoking cessation are crucial for managing AAT deficiency and preventing severe lung disease.
Abstract

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