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The study aims to identify small airway dysfunction (SAD) in patients with alpha-1 antitrypsin deficiency (AATD) who have normal spirometry results.

Small airway dysfunction across alpha-1 antitrypsin deficiency genotypes with preserved spirometry

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The study aims to identify small airway dysfunction (SAD) in patients with alpha-1 antitrypsin deficiency (AATD) who have normal spirometry results.
Retrospective, single-center study involving 60 AATD patients without airflow obstruction (FEV₁/FVC ≥ 0.70)
SAD defined by reduced spirometric flows or IOS R5–R20 measurements
Correlations assessed between spirometry, IOS, and Modified Medical Research Council dyspnea scores.
SAD detected in 23% of patients by spirometry, 10% by IOS, and 13% by both methods
Slight agreement between spirometry and IOS criteria (κ = 0.22)
Only IOS-defined SAD significantly associated with dyspnea (mMRC ≥2; p = 0.05), R5–R20 correlated with mMRC scores (r = 0.38, p = 0.003).

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Retrospective study identifies small airway dysfunction in alpha-1 antitrypsin deficiency, suggesting new detection methods.

Marchese et al. (2026) studied this question.

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