Pulmonary rehabilitation and quality of life in alpha-1 antitrypsin deficiency: findings from a retrospective cohort study.

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder associated with early-onset chronic obstructive pulmonary disease and impaired quality of life (QoL). This retrospective study evaluated the impact of pulmonary rehabilitation (PR) on QoL using repeated St George's Respiratory Questionnaire (SGRQ) scores. Among 274 patients, PR participants had more severe disease but showed no greater QoL improvement over time. Dyspnoea and exacerbation frequency were the strongest predictors of poorer outcomes. PR was not associated with significantly improved SGRQ trajectories. These findings highlight the need for personalised, disease-specific rehabilitation strategies in AATD to address limitations of conventional PR programmes in this population.