Background Alpha-1 Antitrypsin Deficiency (AATD) is a rare genetic condition that predisposes individuals to early-onset respiratory disease. While pulmonary rehabilitation (PR) improves function and quality of life in COPD, limited evidence exists on its suitability and optimisation for AATD, which presents distinct clinical and psychosocial challenges. Methods This qualitative study (November 2023–July 2024) explored how PR services can be adapted to better meet the needs of individuals with AATD. Semi-structured interviews were conducted with 14 patients. Ten healthcare professionals (HCPs) participated in the study: eight took part in three online focus groups and two were interviewed individually. Data were analysed using the Framework Method to identify key improvement areas. A Critical-to-Quality (CTQ) diagram was developed to translate insights into service-level recommendations. Results Six key themes emerged: (1) Accessibility and Customisation, (2) Personalised Rehabilitation Care, (3) Integrated Diagnosis and Referral Pathways, (4) Emotional and Social Support, (5) Post-Rehabilitation Support, and (6) Technology Integration. Participants identified the need for flexible, locally delivered or hybrid PR models, tailored exercise prescriptions ( e.g. , high-intensity interval training), earlier referrals, and condition-specific peer and digital support. Conclusion Tailored PR models for AATD should address disease-specific needs through flexible delivery formats, personalised approaches to desaturation management, and structured referral and follow-up pathways. These findings provide a roadmap for optimising PR in AATD and may inform improvements in rehabilitation for other early-onset or rare respiratory conditions.
Alwadani et al. (Thu,) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: