Introduction
Alpha-1-antitrypsin deficiency, or AATD, is a common inherited and genetic disease in the abnormality format, affecting levels and functionality of the protease inhibitor. Although this inhibitor is produced in the liver, AATD manifests in various organs, including the skin and organs, with clinical manifestations ranging from emphysema to cirrhosis to panniculitis. For this reason, identifying and screening people with chronic obstructive pulmonary disease for alpha-1-antitrypsin is essential. When analyzing comorbidities and resulting deficits in COPD, increased screening should help improve treatment levels in patients with this problem through timely detection.
PICO Question
Population: Clinic COPD patients.
Intervention: Screening for AATD.
Comparison: No screening for a deficiency of alpha-1 antitrypsin.
Outcome: Improved and accelerated diagnosis and management of AATD in COPD patients’ group.
The question: What is the impact of screening for AATD in COPD patients compared to absent or late screening on the diagnosis and treatment of AATD?
Literature Review
In assessing the problem, AATD has been analyzed from different angles using peer-reviewed studies. For example, Nakanishi et al. (2020) emphasize the burden of undetectable AATD genotypes seen with multiplex technology and complicating screening, partially supported by Lopez-Campos et al. (2021). Schneider and Strnad (2021) looked at the effect of infections on carriers, and Remih et al. (2021) focused on finding new treatments for AATD.
At the same time, an essential factor of liver damage highlighted by these researchers can be noted. Ruiz et al. (2019) highlighted the manifestation of this possibility even at an early age in a cohort study of children. The Alpha1-Liver study group led by Hamesch et al. (2019) confirmed similar findings but noted the most frequent manifestation of liver fibrosis in adults with the Pi*ZZZ mutation, accompanied by metabolic changes. Thus, screening can be improved by the observations of these researchers.
Nevertheless, defining AADT in the format of liver disease alone needs to be re-evaluated. Fromme et al. (2022) paralleled Franciosi et al. (2022) by noting that signs of AATD are often panniculitis-like skin lesions, which was also noted in the basic generalized paper on the disease by Strnad et al. (2020). Shapira et al. (2020) further suggested the importance of ethnic differences in AATD allele frequencies. Such observations may explain partial differences in mortality from some common diseases, including COVID-19.
Challenges
Several challenges need to be addressed in the context of strengthening AATD screening, particularly in the case of COPD patients. Such challenges include limited access to testing, especially blood tests, which may not be covered by insurance or unavailable. Lack of awareness among clinicians is another problem – AAPD may not be widely known to staff. Stigma can also result from AATD detection, provided by stereotypes or ignorance, making it challenging to work with patients (Strnad et al., 2020). Moreover, the cost of treatment can be a significant problem and obstacle for many patients.
Research
Several actions can be taken to address the problems and find an answer to the research question. First, raise awareness among clinicians through educational initiatives and make the problem more socially known to patients. Reducing stigma would be the next step in increasing public knowledge to reach a common understanding of the problem. Improving access to testing would involve increasing the coverage of blood tests to screen for AATD. Finally, cost savings could come from negotiating and raising the profile of AATD in the community. In the process, a retrospective review of COPD charts to verify the screening level for AATD is possible (Nakanishi et al., 2020). It could help introduce additional interventions to improve current rates.
Conclusion
Alpha-1-antitrypsin deficiency is an underdiagnosed problem that can be corrected by increased screening. It is one of the potentially treatable causes of COPD, and risk groups should be expanded with the provision of testing for all potentially involved individuals. Raising public and clinician awareness, making treatment cheaper, providing insurance coverage, and improving access to testing are part of the steps to complete research to understand the importance of screening. With such measures, more patients with AATD could be identified and treated, which is in the interest and raison d’être of healthcare.
References
Franciosi, A. N., Ralph, J., O’Farrell, N. J., Buckley, C., Gulmann, C., O’Kane, M., Carroll, T. P., & McElvaney, N. G. (2022). Alpha-1 antitrypsin deficiency-associated panniculitis. Journal of the American Academy of Dermatology, 87(4), 825–832. Web.
Fromme, M., Schneider, C. V., Trautwein, C., Brunetti-Pierri, N., & Strnad, P. (2022). Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder. Journal of Hepatology, 76(4), 946–958. Web.
Hamesch, K., Mandorfer, M., Pereira, V. M., Moeller, L. S., Pons, M., Dolman, G. E., Reichert, M. C., Schneider, C. V., Woditsch, V., Voss, J., Lindhauer, C., Fromme, M., Spivak, I., Guldiken, N., Zhou, B., Arslanow, A., Schaefer, B., Zoller, H., Aigner, E., … European Alpha1-Liver Study Group. (2019). Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ mutation. Gastroenterology, 157(3), 705-719. Web.
Lopez-Campos, J. L., Casas-Maldonado, F., Torres-Duran, M., Medina-Gonzálvez, A., Rodriguez-Fidalgo, M. L., Carrascosa, I., Calle, M., Osaba, L., Rapun, N., Drobnic, E., & Miravitlles, M. (2021). Results of a diagnostic procedure based on multiplex technology on dried blood spots and buccal swabs for subjects with suspected Alpha1 antitrypsin deficiency. Archivos de Bronconeumologia, 57(1), 42–50. Web.
Nakanishi, T., Forgetta, V., Handa, T., Hirai, T., Mooser, V., Lathrop, G. M., Cookson, W. O. C. M., & Richards, J. B. (2020). The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. The European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology, 56(6). Web.
Remih, K., Amzou, S., & Strnad, P. (2021). Alpha1-antitrypsin deficiency: New therapies on the horizon. Current Opinion in Pharmacology, 59, 149–156. Web.
Ruiz, M., Lacaille, F., Berthiller, J., Joly, P., Dumortier, J., Aumar, M., Bridoux-Henno, L., Jacquemin, E., Lamireau, T., Broué, P., Rivet, C., Belmalih, A., Restier, L., Chapuis-Cellier, C., Bouchecareilh, M., Lachaux, A., & Groupe Francophone d’Hépatologie Gastroentérologie et Nutrition Pédiatriques. (2019). Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort. Liver International: Official Journal of the International Association for the Study of the Liver, 39(6), 1136–1146. Web.
Schneider, C. V., & Strnad, P. (2021). SARS-CoV-2 infection in alpha1-antitrypsin deficiency. Respiratory Medicine, 184. Web.
Shapira, G., Shomron, N., & Gurwitz, D. (2020). Ethnic differences in alpha-1 antitrypsin deficiency allele frequencies may partially explain national differences in COVID-19 fatality rates. FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology, 34(11), 14160–14165. Web.
Strnad, P., McElvaney, N. G., Lomas, D. A., & Longo, D. L.(Ed.). (2020). Alpha1-antitrypsin deficiency. The New England Journal of Medicine, 382(15), 1443–1455. Web.