Background: Patients with alpha-1 antitrypsin deficiency (AATD), commonly categorized as a rare disease, have been affected by the changes in healthcare management brought about by COVID-19. This study's aim was to identify the changes that have taken place in AATD patient care as a result of the COVID-19 pandemic in Spain and to propose experts' recommendations aimed at ensuring humanized and quality care for people with AATD in the post-pandemic situation.
Methods: A qualitative descriptive case study with a holistic single-case design was conducted, using focus groups with experts in AATD clinical management, including 15 health professionals with ties to the Spanish health system (12 pneumologists and 2 hospital pharmacists from 11 different hospitals in Spain) and 1 patient representative.
Results: COVID-19 has had a major impact on numerous aspects of AATD clinical patient management in Spain, including diagnostic, treatment, and follow-up phases. The experts concluded that there is a need to strengthen coordination between Primary Care and Hospital Care and improve the coordination processes across all the organizations and actors involved in the healthcare system. Regarding telemedicine and telecare, experts have concluded that it is necessary to promote this methodology and to develop protocols and training programs. Experts have recommended developing personalized and precision medicine, and patient participation in decision-making, promoting self-care and patient autonomy to optimize their healthcare and improve their quality of life. The possibility of monitoring and treating AATD patients from home has also been proposed by experts. Another result of the study was the recommendation of the need to ensure that plasma donations are made on a regular basis by a sufficient number of healthy individuals.
Conclusion: The study advances knowledge by highlighting the challenges faced by health professionals and changes in AATD patient management in the context of the COVID-19 pandemic. It also proposes experts' recommendations aimed at ensuring humanized and quality care for people with AATD in the post-pandemic situation. This work could serve as a reference study for physicians on their daily clinical practice with AATD patients and may also provide guidance on the changes to be put in place for the post-pandemic situation.
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http://dx.doi.org/10.1186/s12913-023-09094-3 | DOI Listing |
Cell Rep Med
January 2025
Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA, USA. Electronic address:
Alpha-1 antitrypsin (AAT) deficiency (AATD) is a monogenic disease caused by misfolding of AAT variants resulting in gain-of-toxic aggregation in the liver and loss of monomer activity in the lung leading to chronic obstructive pulmonary disease (COPD). Using high-throughput screening, we discovered a bioactive natural product, phenethyl isothiocyanate (PEITC), highly enriched in cruciferous vegetables, including watercress and broccoli, which improves the level of monomer secretion and neutrophil elastase (NE) inhibitory activity of AAT-Z through the endoplasmic reticulum (ER) redox sensor protein disulfide isomerase (PDI) A4 (PDIA4). The intracellular polymer burden of AAT-Z can be managed by combination treatment of PEITC and an autophagy activator.
View Article and Find Full Text PDFIJTLD Open
January 2025
Department of Cardiac Thoracic Vascular Sciences and Public Health, University of Padua, Padua, Italy.
J Intern Med
January 2025
Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
Objective: To estimate the incidence, prevalence, and outcomes of patients with diagnosed alpha-1-antitrypsin deficiency (AATD) in Sweden, 2002-2020.
Study Design And Setting: The Swedish National Patient Registry was utilized to identify patients with a first diagnosis of AATD between 2002 and 2020. Each patient was matched with up to 10 comparators from the general population.
J Clin Med
December 2024
Evaluation Service of the Canarian Health Service, Research Network on Chronicity, Primary Care and Health Promotion (RICAPPS), 38001 Santa Cruz de Tenerife, Spain.
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that predisposes a person to certain diseases over their lifetime, mainly including lung disease (in the form of emphysema) and liver disease (liver cirrhosis). Quality of life questionnaires are instruments designed to quantify the deterioration of a patient's health. : This study aimed to assess whether certain quality of life tests that are routinely used in clinical practice can be useful for patients with AATD.
View Article and Find Full Text PDFEur Respir J
January 2025
PulmoScience Lab, Department of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands.
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