Living with Alpha-1 Antitrypsin Deficiency: Empowering Patients and Healthcare Professionals

Abstract

Exacerbations in chronic obstructive pulmonary disease (COPD) impose a substantial healthcare burden and are key drivers of negative clinical outcomes and reduced patient quality of life. Prof Stockley highlighted the main differences in exacerbations between alpha-1 antitrypsin deficiency (AATD) and non-AATD-related COPD and considered potential implications for patient management. Early treatment of exacerbations with purulent sputum is known to be associated with improved patient outcomes. Emerging evidence from clinical studies also suggests that alpha-1 antitrypsin (AAT) therapy can have a positive impact on the nature and course of exacerbations in AATD. Dr Zanichelli outlined how self-administration of intravenous drugs, which is a routine procedure that patients safely implement in other indications, has the potential to be successfully used by carefully selected AATD patients. Reflecting the current trend towards a more personalised approach to AATD therapy, self-administration can empower patients to assume an increasingly active role in their own disease management, thereby bringing improvements in treatment satisfaction, disease control, clinical outcomes, and quality of life. A unique patient’s perspective on AAT self-administration was provided by Karen Skålvoll, who highlighted the key benefits offered by self-infusion, such as reduced localised trauma and increased freedom to travel and enjoy life. Photographs from Karen’s many global travels illustrate the unparalleled freedom that self-administration has afforded her as an AATD patient. From the physician’s standpoint, Prof Sandhaus summarised his experience of how patients can be empowered to self-administer AAT therapy independently with minimal training. Among motivated individuals, self-administration can provide a successful long-term treatment solution for their AATD. The drive towards self-treatment also delivers the dual benefits of reduced healthcare burden and enhanced convenience and flexibility for patients. Prof Koczulla reported that, overall, the available evidence indicates pulmonary rehabilitation as a successful strategy in AATD, which can significantly enhance a patients’ physical performance. Although the most effective training algorithm still needs to be prospectively validated, this approach may prove particularly advantageous in patients with anxiety, dyspnoea, and fear of physical activity. In order to achieve maximum benefit, therapy and goals of pulmonary rehabilitation must always be tailored to the individual patient in a personalised approach to care. The meeting concluded with the compelling ‘AATD Strongman Contest,’ which pitted Prof Koczulla against AATD patient Karen Skålvoll in a physical test of endurance (the so called ‘farmer’s walk’ involving carrying a heavy obstacle) and strength (dumbbell raises). Notwithstanding the expected impairment in aerobic ability, the domination of Karen in the strength test clearly demonstrates the physical gains that patients with AATD can achieve with physical training.