População em geral
Uma vez que a deficiência de alfa 1-antitripsina (AAT) é incurável e que muitos pacientes (especialmente não fumantes) têm uma expectativa de vida normal, não há um rastreamento rotineiro dessa doença.[5]American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.
https://www.atsjournals.org/doi/full/10.1164/rccm.168.7.818
http://www.ncbi.nlm.nih.gov/pubmed/14522813?tool=bestpractice.com
[37]Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556762
http://www.ncbi.nlm.nih.gov/pubmed/28848891?tool=bestpractice.com
[57]Seersholm N, Kok-Jensen A, Dirksen A. Survival of patients with severe alpha-1 antitrypsin deficiency with special reference to non-index cases. Thorax. 1994;49:695-698.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC475060/pdf/thorax00299-0073.pdf
http://www.ncbi.nlm.nih.gov/pubmed/8066566?tool=bestpractice.com
O rastreamento neonatal pode melhorar os riscos modificáveis, como tabagismo, mas também podem afetar adversamente o estresse parental e as relações entre pais e filhos.[7]Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α<sub>1</sub>-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610.
https://erj.ersjournals.com/content/50/5/1700610.long
http://www.ncbi.nlm.nih.gov/pubmed/29191952?tool=bestpractice.com
[9]Dummer J, Dobler CC, Holmes M, et al. 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):321-35.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078913
http://www.ncbi.nlm.nih.gov/pubmed/32030868?tool=bestpractice.com
Teste para fatores predisponentes
O aconselhamento e rastreamento genético é recomendado para irmãos adultos de indivíduos com a variante anormal da AAT, quer sejam heterozigotos ou homozigotos.[37]Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556762
http://www.ncbi.nlm.nih.gov/pubmed/28848891?tool=bestpractice.com
Crianças, pais e parentes distantes devem receber aconselhamento genético e discutir o rastreamento, mas podem aceitar ou recusar razoavelmente o rastreamento.
Exames de portador em um contexto reprodutivo
O rastreamento genético deve ser discutido com indivíduos com risco elevado de deficiência de AAT e com os parceiros dos que têm a deficiência.[5]American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.
https://www.atsjournals.org/doi/full/10.1164/rccm.168.7.818
http://www.ncbi.nlm.nih.gov/pubmed/14522813?tool=bestpractice.com
Doença pulmonar obstrutiva crônica
Os testes para descartar deficiência de AAT devem ser realizados em todos os pacientes com DPOC.[37]Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556762
http://www.ncbi.nlm.nih.gov/pubmed/28848891?tool=bestpractice.com
[44]Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for prevention, diagnosis and management of COPD: 2024 report. 2024 [internet publication].
https://goldcopd.org/2024-gold-report
Asma
A relação entre asma e deficiência de AAT não está clara, e as recomendações de rastreamento variam.[7]Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α<sub>1</sub>-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610.
https://erj.ersjournals.com/content/50/5/1700610.long
http://www.ncbi.nlm.nih.gov/pubmed/29191952?tool=bestpractice.com
[8]Lopes AP, Mineiro MA, Costa F, et al. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology. 2018 Dec;24 Suppl 1:1-21.
https://www.doi.org/10.1016/j.pulmoe.2018.09.004
http://www.ncbi.nlm.nih.gov/pubmed/30473034?tool=bestpractice.com
[9]Dummer J, Dobler CC, Holmes M, et al. 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):321-35.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078913
http://www.ncbi.nlm.nih.gov/pubmed/32030868?tool=bestpractice.com
[37]Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556762
http://www.ncbi.nlm.nih.gov/pubmed/28848891?tool=bestpractice.com
[38]Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19:109-116.
https://www.hindawi.com/journals/crj/2012/920918
http://www.ncbi.nlm.nih.gov/pubmed/22536580?tool=bestpractice.com
As recomendações da American Thoracic Society/European Respiratory Society sugerem o rastreamento de pacientes com asma que têm obstrução persistente do fluxo aéreo, mesmo após terapia agressiva com broncodilatadores.[5]American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.
https://www.atsjournals.org/doi/full/10.1164/rccm.168.7.818
http://www.ncbi.nlm.nih.gov/pubmed/14522813?tool=bestpractice.com
A OMS recomenda que todos os pacientes com asma iniciada na fase adulta sejam testados para deficiência de AAT.[7]Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α<sub>1</sub>-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610.
https://erj.ersjournals.com/content/50/5/1700610.long
http://www.ncbi.nlm.nih.gov/pubmed/29191952?tool=bestpractice.com
[42]World Health Organization. Alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75:397-415.
http://www.ncbi.nlm.nih.gov/pubmed/9447774?tool=bestpractice.com
Um algoritmo sugerido para o rastreamento da deficiência de AAT na asma recomenda primeiramente a genotipagem para os alelos S e Z. Se um deles for detectado, deve ser realizada a medição da AAT sérica.[58]Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111:458-464.
http://www.ncbi.nlm.nih.gov/pubmed/24267358?tool=bestpractice.com