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Signs of Hyperinflation and Ventilation Heterogeneity in Individuals With Severe Alpha-1-Antitrypsin Deficiency at the Age of 42

Year: 2025

Type: article

Abstract: Background: Severe alpha-1-antitrypsin deficiency (AATD) is a known risk factor for early development of emphysema and COPD. By the Swedish national screening program within the years 1972– 74 a cohort of individuals with severe AATD (PiZZ) was identified and regularly followed up. The aim of this study was to investigate alveolar volume (V A ) and the ratio V A /Total lung capacity (V A /TLC) for the detection of signs of hyperinflation and ventilation heterogeneity in PiZZ individuals compared with an age-matched control group (phenotype PiMM), randomly selected from the population registry. Methods: All study participants underwent pulmonary function tests (PFT) including dynamic spirometry and total lung capacity (TLC), residual volume (RV), functional residual capacity (FRC) and alveolar volume (V A ). They answered a questionnaire on smoking habits and symptoms. Quality of life was assessed by answering the Saint George´s Respiratory Questionnaire (SGRQ). Results: Fifty-six PiZZ and 66 PiMM individuals participated in the study. The PiZZ individuals had a significantly lower V A /TLC ratio (p=0.004) and significantly higher RV (p< 0.001) and RV/TLC ratio (p=0.001) than the PiMM individuals. The 13 PiZZ ever-smokers had a significantly higher TLC (p=0.025), RV (p=0.003) and FRC (p=0.003) and a significantly lower V A /TLC ratio (p=0.006) than the 24 PiMM ever-smokers. No significant differences in RV, TLC, V A , and V A /TLC ratio were found between the never-smoking PiZZ and PiMM individuals. The ratio RV/TLC was significantly higher in the PiZZ never-smokers than in the PiMM never-smokers (p=0.026). Conclusion: At the age of 42 the PiZZ ever-smokers have signs of hyperinflation and ventilation heterogeneity. Plain Language Summary: Uneven airflow in the lungs, also called uneven ventilation is known as an indicator for lung disease. It can be analysed by measurement of alveolar volume and total lung capacity. The presence of uneven ventilation has not been investigated in individuals with severe Alpha-1-antitrypsin deficiency (shortened to AATD). We invited 129 individuals from a known cohort with severe AATD to perform lung function tests. Furthermore, they answered questions about health, tobacco consumption and respiratory symptoms. To compare the results, we also invited a group of individuals without AATD and had them perform the same tests. We found that individuals with severe AATD show signs of uneven ventilation, especially when they are or have been smoking. Our results suggest that analysis of alveolar volume is a simple, safe and time-saving method for the early detection of lung disease in individuals with severe AATD. Keywords: alpha-1-antitrypsin-deficiency, alveolar volume, hyperinflation, smoking

Source: International Journal of COPD

DOI: 10.2147/copd.s486575

Authors: Georg Schramm, Per Wollmer, Eeva Piitulainen, Suneela Zaigham, Hanan Tanash

Institutions: Lund University, Skåne University Hospital, Uppsala University

Language: English

Topic: Chronic Obstructive Pulmonary Disease (COPD) Research

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,836