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Respiratory symptoms and lung function in young adults with severe alpha(1)-antitrypsin deficiency (PiZZ)

E Piitulainen1, T Sveger

  • 1Department of Respiratory Medicine, Lund University, University Hospital, Malmö, Sweden. eeva.piitulainen@lung.mas.lu.se

Thorax
|August 1, 2002
PubMed

Insights

Individuals with alpha(1)-antitrypsin (AAT) deficiency (PiZ phenotype) show normal lung function in early adulthood but a high rate of asthma symptoms. Smoking exacerbates respiratory issues in this group.

Area of Science:

  • Pulmonology
  • Genetics
  • Public Health

Background:

  • Neonatal screening for alpha(1)-antitrypsin (AAT) deficiency identified 129 infants with severe AAT deficiency (PiZ phenotype) in Sweden (1972-1974).
  • This cohort has undergone prospective follow-up since identification.

Purpose of the Study:

  • To evaluate the long-term respiratory health of individuals with severe AAT deficiency (PiZ phenotype).
  • To assess lung function and respiratory symptoms in young adults identified through neonatal screening.

Main Methods:

  • A follow-up examination was conducted on 124 surviving PiZ subjects residing in Sweden at approximately 22 years of age.
  • Assessments included clinical examination, spirometry (FEV1, VC, FEV1/VC ratio), and questionnaires on smoking habits and respiratory symptoms.

Main Results:

  • Ninety-eight subjects (mean age 22.5 years) attended the follow-up, showing mean lung function parameters within normal predicted ranges (FEV1 98%, VC 103%).
  • Annual decline in FEV1 and VC was observed (-1.2% and -1.5% predicted per year, respectively).
  • A high prevalence of asthma symptoms (29% recurrent wheezing, 15% physician-diagnosed asthma) was noted. Smoking was associated with increased respiratory symptoms (wheezing, dyspnea), though lung function did not differ significantly between smokers and non-smokers.

Conclusions:

  • Young adults with alpha(1)-antitrypsin deficiency (PiZ phenotype) exhibit normal lung function but a high prevalence of asthma symptoms.
  • Smoking is linked to a greater frequency of respiratory symptoms in this population, highlighting the importance of smoking cessation.
Abstract

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