THERAPEUTIC STRATEGIES FOR PULMONARY AND HEPATIC MANIFESTATIONS IN ALPHA-1 ANTITRYPSIN DEFICIENCY: A LITERATURE REVIEW

Authors

  • Victória Dias da Silva Author
  • Caio Tales Alvares da Costa Author
  • Carlos Alberto Pereira da Silva Júnior Author
  • Nathália Bezerra de Souza Rates Author
  • Luana da Silva Souza Author

DOI:

https://doi.org/10.56238/levv17n57-053

Keywords:

AATD, Protease, Antiprotease, Pulmonary and Hepatic Manifestations, Therapeutics

Abstract

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed, inherited genetic disease primarily associated with progressive pulmonary and hepatic manifestations. Alpha-1 antitrypsin is a protein produced predominantly in the liver, responsible for inhibiting proteases, especially neutrophil elastase, playing a fundamental role in protecting the lung parenchyma. Deficiency of this protein results in protease-antiprotease imbalance, favoring lung tissue destruction and the accumulation of abnormal protein in hepatocytes. This study aims to conduct a literature review on AATD, addressing its clinical importance, with an emphasis on therapeutic strategies aimed at optimizing treatment and improving patients' quality of life. It is a literature review based on national and international scientific literature, using databases such as Google Academic, PubMed, and SciELO. The findings show that early diagnosis and individualized therapeutic management, including alpha-1 antitrypsin replacement therapy, pharmacological and non-pharmacological measures, and multidisciplinary follow-up, are essential to delay disease progression and improve prognosis.

Downloads

Download data is not yet available.

References

1.Camelier AA, Winter DH, Jardim JR, Barboza CEG, Cukier A, Miravitlles M. Deficiência de alfa-1 antitripsina: diagnóstico e tratamento. J bras pneumol [Internet]. 2008Jul;34(7):514–27. Available from: https://doi.org/10.1590/S1806-37132008000700012

2.CoelhoA. E. C., AvelarC. I. S., AraujoH. de L., SilvaI. M. P., MendesL. N. J., BernardinoJ. de O., AguilarL. L. F. de, MeloS. K. de F., CarneiroY. V., & VasconcelosS. T. (2021). Abordagem geral da Doença Pulmonar Obstrutiva Crônica (DPOC): uma revisão narrativa. Revista Eletrônica Acervo Médico, 1(1), e8657. https://doi.org/10.25248/reamed.e8657.2021

3.Dani, R.; Passos, M.C.F. Gastroenterologia Essencial, 4. ed. Rio de Janeiro, 2011.

4.De Oliveira, P. C. (2013). Apresentações clínicas da DPOC. Pulmão RJ, 22(2), 15-18.

5.Dummer J, Dobler CC, Holmes M, Chambers D, Yang IA, Parkin L, Smith S, Wark P, Dev A, Hodge S, Dabscheck E, Gooi J, Samuel S, Knowles S, Holland AE. Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand. Respirology. 2020 Mar;25(3):321-335. doi: 10.1111/resp.13774. Epub 2020 Feb 6. PMID: 32030868; PMCID: PMC7078913.

6.European Respiratory Journal 2017 50(5): 1700610; DOI: https://doi.org/10.1183/13993003.00610-2017

7.Felisbino MB, Fernandes FLA, Nucci MCNM de, Pinto RM de C, Pizzichini E, Cukier A. The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil. J bras pneumol [Internet]. 2018Sep;44(5):383–9. Available from: https://doi.org/10.1590/S1806-37562017000000420

8.Global initiative for chronic obstructive lung disease https://goldcopd.org/2025-gold-report/

9.Godoy I. Diagnosing alpha-1 antitrypsin deficiency: does it prevent or improve the course of COPD?. J bras pneumol [Internet]. 2016Sep;42(5):307–8. Available from: https://doi.org/10.1590/S1806-37562016000400002

10.Harvey, R.A.; Ferreier, D.R. Bioquímica ilustrada 5. ed. Porto Alegre, 2012.

11.Hernández-Pérez JM, López-Charry CV. Is there any kind of relationship between alpha-1 antitrypsin levels and lung function parameters?. J bras pneumol [Internet]. 2023;49(1):e20220432. Available from: https://doi.org/10.36416/1806-3756/e20220432

12.Jardim JR, Casas-Maldonado F, Fernandes FLA, Castellano MVC de O, Torres-Durán M, Miravitlles M. Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil. J bras pneumol [Internet]. 2021;47(3):e20200380. Available from: https://doi.org/10.36416/1806-3756/e20200380

13.Kierszenbaum, A.L.; Tres, L.L. Histologia e Biologia Celular- Uma introdução à patologia, 5. ed. Rio de Janeiro, 2021.

14.Kummar, V.; Abbas, A.K.; Aster, J.C. Robbins Patologia Básica 9. ed. Rio de Janeiro, 2013.

15.Lomas DA. The selective advantage of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2006 May 15;173(10):1072-7. doi: 10.1164/rccm.200511-1797PP. Epub 2006 Jan 26. PMID: 16439713

16.Loscalzo, J.; Fauci, A.S.; Kasper, D.L. Medicina Interna de Harrinson 21. ed. Porto Alegre, 2024.

17.Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, McElvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley RA. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610. doi: 10.1183/13993003.00610-2017. PMID: 29191952.

18.Mitchell, Richard N.; Kummar, Vinay; Abbas, Abul K.; AL, et. Robbins & Cotran Fundamentos de Patologia 9. ed. Rio de Janeiro, 2017.

19.Russo R, Zillmer LR, Nascimento OA, Manzano B, Ivanaga IT, Fritscher L, et al.. Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil. J bras pneumol [Internet]. 2016Sep;42(5):311–6. Available from: https://doi.org/10.1590/S1806-37562015000000180

20.Serra, H. G., Bertuzzo, C. S., Pereira, M. C., Rossi, C. L., Pinto Júnior, W., & Paschoal, I. A.. (2008). Avaliação da concentração de alfa 1-antitripsina e da presença dos alelos S e Z em uma população de indivíduos sintomáticos respiratórios crônicos. Jornal Brasileiro De Pneumologia, 34(12), 1019–1025. https://doi.org/10.1590/S1806-37132008001200006

21.Tejwani V, Nowacki AS, Fye E, Sanders C, Stoller JK. O impacto do diagnóstico tardio da deficiência de alfa-1 antitripsina: a associação entre o atraso no diagnóstico e o agravamento do quadro clínico. Respir Care 2019;64:915-922

22.Wang, Liguo1,†; Marek, George W. III2,†; Hlady, Ryan A.3,†; Wagner, Ryan T.3; Zhao, Xia3; Clark, Virginia C.4; Fan, Alex Xiucheng2; Liu, Chen5; Brantly, Mark*,2; Robertson, Keith D.*,3,6. Alpha‐1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity. Hepatology 70(1):p 51-66, July 2019. | DOI: 10.1002/hep.30526

23.Zaterka, S.; Eisig, J.N. Tratado de gastroenterologia: da graduação à pós-graduação 2. ed. São Paulo, 2016.

Published

2026-02-16

How to Cite

DA SILVA, Victória Dias; DA COSTA, Caio Tales Alvares; DA SILVA JÚNIOR, Carlos Alberto Pereira; RATES, Nathália Bezerra de Souza; SOUZA, Luana da Silva. THERAPEUTIC STRATEGIES FOR PULMONARY AND HEPATIC MANIFESTATIONS IN ALPHA-1 ANTITRYPSIN DEFICIENCY: A LITERATURE REVIEW. LUMEN ET VIRTUS, [S. l.], v. 17, n. 57, p. e12210, 2026. DOI: 10.56238/levv17n57-053. Disponível em: https://periodicos.newsciencepubl.com/LEV/article/view/12210. Acesso em: 17 feb. 2026.