Alpha-1 Antitrypsin Deficiency (AATD) is a rare genetic condition that predisposes patients to lung and liver disease and is often underdiagnosed due to incomplete diagnosis of chronic obstructive pulmonary disease (COPD) and asthma. Improvements in physician awareness have been made, but better strategies for both diagnosis and management are still required. The only current disease-modifying therapy for AATD is the infusion of the missing Alpha-1 Antitrypsin (AAT) protein, which can slow progression of emphysema. However, AAT treatment can impact patient freedom and quality of life due to the need for weekly intravenous infusions. A symposium was held to discuss patient-centric aspects of care that have impact on the lives of patients with AATD, including exacerbations of their lung disease, self-administration of intravenous AAT therapy and pulmonary rehabilitation. Intravenous self-infusion of drugs is an established treatment strategy for patients with a variety of conditions and can improve patient quality of life, freedom and mental well-being. Experience from these areas show that patients typically manage their treatment well and without complications. When applied to AATD, training patients to self-infuse therapy can be successful, but formal guidelines would be beneficial. In addition to pharmacological intervention, individualized pulmonary rehabilitation, exercise and educational programs can encourage health-enhancing patient behavior and further improve patient quality of life. However, differences in skeletal muscle adaptations to pulmonary rehabilitation exercise regimens have been observed between patients with AATD and non-AATD COPD, highlighting the need to develop training programs specifically designed for patients with AATD.
- Sandhaus, R. A.
- Strange, C.
- Zanichelli, A.
- Skålvoll, K.
- Koczulla, A. R.
- Stockley, R. A.
Keywords
- alpha-1 antitrypsin
- chronic obstructive pulmonary disease
- exacerbations
- pulmonary rehabilitation
- quality of life
- self-administration
- not-for profit disease management company for AATD. Dr Robert A Sandhaus reports
- participation in advisory boards for Grifols, CSL Behring, AstraZeneca, Mereo
- BioPharma, and Inhibrx for which he receives reimbursement of travel expenses. Dr
- Charlie Strange consults on AATD and/or asthma and COPD with AstraZeneca, CSL
- Behring, Dicerna, Grifols, and Vertex. He has grants paid to MUSC from Adverum, CSA
- Medical, CSL Behring, Grifols, MatRx, Novartis, Nuvaira, Pulmonx, Takeda, and
- Vertex. Dr Andrea Zanichelli has received meeting sponsorship from and performed
- clinical trial research funded by BioCryst, CSL Behring, Shire, Pharming Dyax
- Corporation, and acts as a consultant for CSL Behring and Shire. Karen Skålvoll
- reports personal fees from CSL Behring which was paid to Team Alpha-1 Athlete. Dr A
- Rembert Koczulla reports personal fees from CSL Behring, outside the submitted work.
- Dr Robert A Stockley serves on the advisory boards for several pharmaceutical
- companies with an interest in AATD, including CSL Behring, Mereo BioPharma, Vertex,
- Z Factor and Kamada, and has received non-commercial funding from CSL Behring,
- Grifols, Takeda and Mereo BioPharma. The authors report no other conflicts of
- interest in this work.