Characterization of Copd in Alpha-1 Antitrypsin Deficiency: Insights from Patient Cohort Retrospective Study

Abstract

Background:

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that predisposes individuals to early-onset chronic obstructive pulmonary disease (COPD). This study aimed to assess the clinical, functional, and demographic characteristics of AATD-COPD patients.

Methods:

A cross-sectional analysis was conducted on 100 patients with confirmed AATD-COPD in our tertiary care hospital. Data on demographics, smoking history, genotype, comorbidities, pulmonary function, exacerbation frequency, clinical indices, and treatment modalities were collected and analysed.

Results:

The mean age of patients was 60.1 years, with a male predominance (59%). The average age at COPD diagnosis was 52 years, and the mean diagnostic delay was 4.84 years. Most patients (88%) were index cases. Smoking history was significant in 75% of patients, with a mean exposure of 24.7 pack-years. The predominant genotype was Pi*ZZ (66%). GOLD category B was most common (54%), and 15% had ≥2 ambulatory exacerbations per year. Comorbidities included bronchiectasis (19%) and liver disease (15%). The mean FEV₁ was 56.5% predicted, and DLCO was 55.6%, indicating moderate airflow obstruction and gas exchange impairment. Augmentation therapy was received by 37% of patients, and emphysema was present in 87%. The mean serum AAT level was 37.5 mg/dL.

Conclusion:

AATD-COPD presents with significant clinical heterogeneity, but is commonly associated with early-onset COPD, high prevalence of emphysema, and moderate impairment in lung function. Early diagnosis and targeted therapies such as augmentation can benefit this population, emphasizing the need for routine screening in appropriate clinical settings.