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Densitometric and Functional Progression in Patients with Alpha-1 Antitrypsin Deficiency Genotype SZ
Soha Esmaili1,2, Myriam Calle Rubio1,3,4, José Luis Álvarez-Sala1,3
1Pulmonology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain.
Journal of Clinical Medicine
|March 17, 2025
Summary
Densitometry effectively tracks lung structure changes in alpha-1 antitrypsin deficiency (AATD) patients with the PiSZ genotype, revealing faster decline in current smokers and those diagnosed recently. Early detection via densitometry aids personalized COPD interventions.
Area of Science:
- Pulmonary Medicine
- Radiology
- Genetics
Background:
- Alpha-1 antitrypsin deficiency (AATD) with the PiSZ genotype is linked to chronic obstructive pulmonary disease (COPD).
- Emphysema progression factors beyond smoking require further investigation in PiSZ AATD patients.
Purpose of the Study:
- To assess lung function and densitometric parameter progression in PiSZ AATD patients over two years.
- To determine the impact of smoking status, exacerbation frequency, and time since diagnosis on disease progression.
- To explore correlations between functional and densitometric measures and regional emphysema patterns.
Main Methods:
- A two-year observational study of 31 PiSZ AATD patients.
- Stratification by time since diagnosis, smoking status, and exacerbation frequency.
- Assessment of functional (FEV1, DLCO, KCO) and densitometric (PD-15, HU-950) parameters using mixed-effects models and correlation analyses.
Main Results:
- Patients diagnosed <5 years prior showed faster PD-15 decline than those diagnosed ≥5 years prior.
- Current smokers exhibited more significant deterioration in PD-15 and HU-950 compared to never smokers.
- Frequent/severe exacerbations worsened structural decline, especially in basal lung regions; strong functional-densitometric correlations emerged in later disease stages.
Conclusions:
- Densitometry plays a crucial role in identifying early structural changes in PiSZ AATD, often preceding functional measure detection.
- Integrating densitometry into clinical practice can facilitate personalized interventions and improve patient outcomes for AATD-related COPD.
