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Published in: Multidisciplinary Respiratory Medicine 1/2018

Open Access 01-12-2018 | Commentary

Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement

Authors: Andrea Gramegna, Stefano Aliberti, Marco Confalonieri, Angelo Corsico, Luca Richeldi, Carlo Vancheri, Francesco Blasi

Published in: Multidisciplinary Respiratory Medicine | Issue 1/2018

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Abstract

Background

The European Respiratory Society recently published an important statement reviewing available evidence on diagnosis and treatment of lung disease associated to alpha-1 antitrypsin deficiency (AATD). Several issues on this topic still remain unresolved and subject of interpretation according to different standard procedures and healthcare systems worldwide. The purpose of this commentary is to offer a critical contribution to most of these controversial issues in light of an Italian perspective for the management of this disease.

Main body

The clinical spectrum of AATD lung disease might include different manifestations and the traditional paradigm of a younger emphysematous patient has been revealing insufficient. Targeting with appropriate testing only COPD patients might be considered a limited approach leading to underestimation of the real prevalence of the disease. Several reports have suggested the association between AATD and other chronic respiratory conditions, as asthma and bronchiectasis. A deeper evaluation of clinical, radiological, microbiological and functional variables is, therefore, needed in order to investigate different phenotypes in AATD patients. In addition, a new line of translational research in AATD might focus on the development of personalized therapeutic regimens taking into account the patient clinical profile and needs.

Conclusions

Over the past years, AATD has been interpreted as a common mechanism of inflammatory disequilibrium and tissue damage across different conditions. Future research is gradually pointing toward this new paradigm by expanding the evidence of the role of AAT as a potent immunomodulatory and anti-inflammatory drug in conditions different from pulmonary emphysema.
Literature
1.
go back to reference American Thoracic Society; European Respiratory Society. 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;168(7):818–900.CrossRef American Thoracic Society; European Respiratory Society. 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;168(7):818–900.CrossRef
2.
go back to reference Gramegna A, Amati F, Terranova L, Sotgiu G, Tarsia P, Miglietta D, et al. Neutrophil elastase in bronchiectasis. Respir Res. 2017;18(1):211.CrossRef Gramegna A, Amati F, Terranova L, Sotgiu G, Tarsia P, Miglietta D, et al. Neutrophil elastase in bronchiectasis. Respir Res. 2017;18(1):211.CrossRef
3.
go back to reference Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3):246–59.CrossRef Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3):246–59.CrossRef
4.
go back to reference Seersholm N, Dirksen A, Kok-Jensen A. Airways obstruction and two-year survival in patients with severe alpha1 antitrypsin deficiency. Eur Respir J. 1994;7:1985–7.PubMed Seersholm N, Dirksen A, Kok-Jensen A. Airways obstruction and two-year survival in patients with severe alpha1 antitrypsin deficiency. Eur Respir J. 1994;7:1985–7.PubMed
5.
go back to reference Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha-1 antitrypsin deficiency, pi*ZZ. J Clin Epidemiol. 1988;41:1157–65.CrossRef Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha-1 antitrypsin deficiency, pi*ZZ. J Clin Epidemiol. 1988;41:1157–65.CrossRef
6.
go back to reference Evald T, Dirksen A, Keittelmann S, , Viskum K, Kok-Jensen A. Decline in pulmonary function in patients with alpha 1-antitrypsin deficiency. Lung 1990;168 Suppl:579–585.CrossRef Evald T, Dirksen A, Keittelmann S, , Viskum K, Kok-Jensen A. Decline in pulmonary function in patients with alpha 1-antitrypsin deficiency. Lung 1990;168 Suppl:579–585.CrossRef
7.
go back to reference Dirksen A, Piitulainen E, Parr DG, Deng C, Wencker M, Shaker SB, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha-1 antitrypsin deficiency. Eur Respir J. 2009;33:1345–53.CrossRef Dirksen A, Piitulainen E, Parr DG, Deng C, Wencker M, Shaker SB, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha-1 antitrypsin deficiency. Eur Respir J. 2009;33:1345–53.CrossRef
8.
go back to reference Stockley R, Parr DG, Piitulainen E, Stolk J, Stoel BC, Dirksen A, et al. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res. 2010;11(136). Stockley R, Parr DG, Piitulainen E, Stolk J, Stoel BC, Dirksen A, et al. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res. 2010;11(136).
9.
go back to reference Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386:360–8.CrossRef Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386:360–8.CrossRef
10.
go back to reference Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017;50:1700610.CrossRef Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017;50:1700610.CrossRef
11.
go back to reference Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749–57.CrossRef Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med. 2009;360(26):2749–57.CrossRef
12.
go back to reference Gishen P, Saunders AJ, Tobin MJ, Hutchison DC. Alpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of pi type Z and pi type SZ: a survey by the British thoracic association. Clin Radiol. 1982;33(4):371–7.CrossRef Gishen P, Saunders AJ, Tobin MJ, Hutchison DC. Alpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of pi type Z and pi type SZ: a survey by the British thoracic association. Clin Radiol. 1982;33(4):371–7.CrossRef
13.
go back to reference Demeo DL, Sandhaus RA, Barker AF, Brantly ML, Eden E, McElvaney NG, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007;62(9):806–13.CrossRef Demeo DL, Sandhaus RA, Barker AF, Brantly ML, Eden E, McElvaney NG, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007;62(9):806–13.CrossRef
14.
go back to reference Calabrò A, Torricelli E, Rosi E, et al. Idiopathic pulmonary fibrosis associated with ALpha-1 antitrypsin deficiency: concomitant finding or real association? SM J Case Rep. 2017;3(8):1075. Calabrò A, Torricelli E, Rosi E, et al. Idiopathic pulmonary fibrosis associated with ALpha-1 antitrypsin deficiency: concomitant finding or real association? SM J Case Rep. 2017;3(8):1075.
15.
go back to reference Cottin V, Nunes H, Brillet PY, Delaval P, Devouassoux G, Tillie-Leblond I, et al. Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur Respir J. 2005;4:586–93.CrossRef Cottin V, Nunes H, Brillet PY, Delaval P, Devouassoux G, Tillie-Leblond I, et al. Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur Respir J. 2005;4:586–93.CrossRef
16.
go back to reference Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111(6):458–64.CrossRef Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111(6):458–64.CrossRef
17.
go back to reference Makino S, Chosy L, Valdivia E, Reed CE. Emphysema with hereditary alpha-1 antitrypsin deficiency masquerading as asthma. J Allergy. 1970l;46(1):40–8.CrossRef Makino S, Chosy L, Valdivia E, Reed CE. Emphysema with hereditary alpha-1 antitrypsin deficiency masquerading as asthma. J Allergy. 1970l;46(1):40–8.CrossRef
18.
go back to reference Black LF, Hyatt RE, Stubbs SE. Mechanism of expiratory airflow limitation in chronic obstructive pulmonary disease associated with 1 -antitrypsin deficiency. Am Rev Respir Dis. 1972;105(6):891–9.PubMed Black LF, Hyatt RE, Stubbs SE. Mechanism of expiratory airflow limitation in chronic obstructive pulmonary disease associated with 1 -antitrypsin deficiency. Am Rev Respir Dis. 1972;105(6):891–9.PubMed
19.
go back to reference Tobin MJ, Cook PJL, Hutchison DCS. Alpha1- antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for pi type Z. Br J Dis Chest. 1983;77:14–27 34.CrossRef Tobin MJ, Cook PJL, Hutchison DCS. Alpha1- antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for pi type Z. Br J Dis Chest. 1983;77:14–27 34.CrossRef
20.
go back to reference Janus ED, Phillips NT, Carrell RW. Smoking lung function, and alpha-i-antitrypsin deficiency. Lancet. 1985;1:152–4.CrossRef Janus ED, Phillips NT, Carrell RW. Smoking lung function, and alpha-i-antitrypsin deficiency. Lancet. 1985;1:152–4.CrossRef
21.
go back to reference Larsson C. Natural history and life expectancy in severe alpha,-antitrypsin deficiency. PiZ Acta Med Scand. 1978;204:345–51.CrossRef Larsson C. Natural history and life expectancy in severe alpha,-antitrypsin deficiency. PiZ Acta Med Scand. 1978;204:345–51.CrossRef
22.
go back to reference Eriksson S. Studies in alpha-i-antitrypsin deficiency. Acta Med Scand. 1965;177:1–85. Eriksson S. Studies in alpha-i-antitrypsin deficiency. Acta Med Scand. 1965;177:1–85.
23.
go back to reference McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, et al. Baseline characteristics of enrollees in the National Heart, lung and blood institute registry of alpha 1-antitrypsin deficiency. Alpha 1-antitrypsin deficiency registry study group. Chest. 1997;111(2):394–403.CrossRef McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, et al. Baseline characteristics of enrollees in the National Heart, lung and blood institute registry of alpha 1-antitrypsin deficiency. Alpha 1-antitrypsin deficiency registry study group. Chest. 1997;111(2):394–403.CrossRef
24.
go back to reference [No authors listed]. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med. 1998;158(1):49–59. [No authors listed]. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med. 1998;158(1):49–59.
25.
go back to reference [No authors listed]. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997;75(5):397–415. [No authors listed]. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997;75(5):397–415.
26.
go back to reference Kelbel T, Morris D, Walker D, Henao MP, Craig T. The Allergist’s role in detection of severe Alpha-1 antitrypsin deficiency. J Allergy Clin Immunol Pract. 2017;5(5):1302–6.CrossRef Kelbel T, Morris D, Walker D, Henao MP, Craig T. The Allergist’s role in detection of severe Alpha-1 antitrypsin deficiency. J Allergy Clin Immunol Pract. 2017;5(5):1302–6.CrossRef
27.
go back to reference Miravitlles M, Vilà S, Torrella M, Balcells E, Rodríguez-Frías F, de la Roza C, et al. Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults. Respir Med. 2002;96(3):186–92.CrossRef Miravitlles M, Vilà S, Torrella M, Balcells E, Rodríguez-Frías F, de la Roza C, et al. Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults. Respir Med. 2002;96(3):186–92.CrossRef
28.
go back to reference Eden E. Asthma and COPD in alpha-1 antitrypsin deficiency. Evidence for the Dutch hypothesis COPD. 2010;7(5):366–74.PubMed Eden E. Asthma and COPD in alpha-1 antitrypsin deficiency. Evidence for the Dutch hypothesis COPD. 2010;7(5):366–74.PubMed
29.
go back to reference Cosio MG, Bazzan E, Rigobello C, Tinè M, Turato G, Baraldo S, et al. Alpha-1 antitrypsin deficiency: beyond the protease/Antiprotease paradigm. Ann Am Thorac Soc. 2016;13(Suppl 4):S305–10.CrossRef Cosio MG, Bazzan E, Rigobello C, Tinè M, Turato G, Baraldo S, et al. Alpha-1 antitrypsin deficiency: beyond the protease/Antiprotease paradigm. Ann Am Thorac Soc. 2016;13(Suppl 4):S305–10.CrossRef
30.
go back to reference Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10 Pt 1):1805–9.CrossRef Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10 Pt 1):1805–9.CrossRef
31.
go back to reference Fallat RJ. Reactive airways disease and alpha-1 antitrypsin deficiency. In: Crystal RG, editor. Alpha 1-antitrypsin deficiency: biology, pathogenesis, clinical manifestations, therapy. New York: Marcel Dekker; 1996. p. 259–79. Fallat RJ. Reactive airways disease and alpha-1 antitrypsin deficiency. In: Crystal RG, editor. Alpha 1-antitrypsin deficiency: biology, pathogenesis, clinical manifestations, therapy. New York: Marcel Dekker; 1996. p. 259–79.
32.
go back to reference Stockley RA. The multiple facets of alpha-1-antitrypsin. Ann Transl Med. 2015;3(10):130. Stockley RA. The multiple facets of alpha-1-antitrypsin. Ann Transl Med. 2015;3(10):130.
33.
go back to reference Parr DG, Guest PG, Reynolds JH, Dowson LJ, Stockley RA. Prevalence and impact of bronchiectasis in alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2007;176:1215–21.CrossRef Parr DG, Guest PG, Reynolds JH, Dowson LJ, Stockley RA. Prevalence and impact of bronchiectasis in alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2007;176:1215–21.CrossRef
34.
go back to reference Greulich T, Nell C, Herr C, Vogelmeier C, Kotke V, Wiedmann S, et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003–2015. Orphanet J Rare Dis. 2016;11(1):75.CrossRef Greulich T, Nell C, Herr C, Vogelmeier C, Kotke V, Wiedmann S, et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003–2015. Orphanet J Rare Dis. 2016;11(1):75.CrossRef
35.
go back to reference Strange C. Airway disease in alpha-1 antitrypsin deficiency. COPD. 2013;10(Suppl 1):68–73.CrossRef Strange C. Airway disease in alpha-1 antitrypsin deficiency. COPD. 2013;10(Suppl 1):68–73.CrossRef
36.
go back to reference Aggarwal N, Delgado BM, Salipalli S, Matamala N, Rademacher J, Schwerk N,, et al. Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis? [corrected]. ERJ Open Res. 2016;2(2). Aggarwal N, Delgado BM, Salipalli S, Matamala N, Rademacher J, Schwerk N,, et al. Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis? [corrected]. ERJ Open Res. 2016;2(2).
37.
go back to reference Lonni S, Chalmers JD, Goeminne PC, McDonnell MJ, Dimakou K, De Soyza A, et al. Etiology of non-cystic fibrosis bronchiectasis in adults and its correlation to disease severity. Ann Am Thorac Soc. 2015;12(12):1764–70.CrossRef Lonni S, Chalmers JD, Goeminne PC, McDonnell MJ, Dimakou K, De Soyza A, et al. Etiology of non-cystic fibrosis bronchiectasis in adults and its correlation to disease severity. Ann Am Thorac Soc. 2015;12(12):1764–70.CrossRef
38.
go back to reference Gao YH, Guan WJ, Liu SX, Wang L, Cui JJ, Chen RC, et al. Aetiology of bronchiectasis in adults: a systematic literature review. Respirology. 2016;21(8):1376–83.CrossRef Gao YH, Guan WJ, Liu SX, Wang L, Cui JJ, Chen RC, et al. Aetiology of bronchiectasis in adults: a systematic literature review. Respirology. 2016;21(8):1376–83.CrossRef
39.
go back to reference Chalmers JD, Aliberti S, Polverino E, Vendrell M, Crichton M, Loebinger M, et al. The EMBARC European bronchiectasis registry: protocol for an international observational study. ERJ Open Research. 2016;2(1):00081–2015.CrossRef Chalmers JD, Aliberti S, Polverino E, Vendrell M, Crichton M, Loebinger M, et al. The EMBARC European bronchiectasis registry: protocol for an international observational study. ERJ Open Research. 2016;2(1):00081–2015.CrossRef
40.
go back to reference Rademacher J, de Roux A, Ringshausen FC. PROGNOSIS - the PROspective German NOn-CF BronchiectaSIS patient registry. Pneumologie. 2015;69(7):391–3.CrossRef Rademacher J, de Roux A, Ringshausen FC. PROGNOSIS - the PROspective German NOn-CF BronchiectaSIS patient registry. Pneumologie. 2015;69(7):391–3.CrossRef
41.
go back to reference Aliberti S, Hill AT, Mantero M, Battaglia S, Centanni S, Lo Cicero S, et al. SIP bronchiectasis audit working group. Quality standards for the management of bronchiectasis in Italy: a national audit. Eur Respir J. 2016;48(1):244–8.CrossRef Aliberti S, Hill AT, Mantero M, Battaglia S, Centanni S, Lo Cicero S, et al. SIP bronchiectasis audit working group. Quality standards for the management of bronchiectasis in Italy: a national audit. Eur Respir J. 2016;48(1):244–8.CrossRef
42.
go back to reference Blasi F, Chalmers J, Aliberti S. COPD and bronchiectasis: phenotype, Endotype or co-morbidity? COPD. 2014;6:603–4.CrossRef Blasi F, Chalmers J, Aliberti S. COPD and bronchiectasis: phenotype, Endotype or co-morbidity? COPD. 2014;6:603–4.CrossRef
43.
go back to reference Faverio P, Stainer A, Bonaiti G, Zucchetti SC, Simonetta E, Lapadula G, et al. Characterizing Non-Tuberculous Mycobacteria Infection in Bronchiectasis. Int J Mol Sci. 2016;17(11).CrossRef Faverio P, Stainer A, Bonaiti G, Zucchetti SC, Simonetta E, Lapadula G, et al. Characterizing Non-Tuberculous Mycobacteria Infection in Bronchiectasis. Int J Mol Sci. 2016;17(11).CrossRef
44.
go back to reference Mirsaeidi M, Farshidpour M, Ebrahimi G, Aliberti S, Falkinham JO 3rd. Management of nontuberculous mycobacterial infection in the elderly. Eur J Intern Med. 2014;25(4):356–63.CrossRef Mirsaeidi M, Farshidpour M, Ebrahimi G, Aliberti S, Falkinham JO 3rd. Management of nontuberculous mycobacterial infection in the elderly. Eur J Intern Med. 2014;25(4):356–63.CrossRef
45.
go back to reference Bonaiti G, Pesci A, Marruchella A, Lapadula G, Gori A, Aliberti S. Nontuberculous mycobacteria in noncystic fibrosis bronchiectasis. Biomed Res Int. 2015;2015:197950.CrossRef Bonaiti G, Pesci A, Marruchella A, Lapadula G, Gori A, Aliberti S. Nontuberculous mycobacteria in noncystic fibrosis bronchiectasis. Biomed Res Int. 2015;2015:197950.CrossRef
46.
go back to reference Chan ED, Kaminska AM, Gill W, Chmura K, Feldman NE, Bai X, et al. Alpha-1-antitrypsin (AAT) anomalies are associated with lung disease due to rapidly growing mycobacteria and AAT inhibits Mycobacterium abscessus infection of macrophages. Scand J Infect Dis. 2007;39(8):690–6.CrossRef Chan ED, Kaminska AM, Gill W, Chmura K, Feldman NE, Bai X, et al. Alpha-1-antitrypsin (AAT) anomalies are associated with lung disease due to rapidly growing mycobacteria and AAT inhibits Mycobacterium abscessus infection of macrophages. Scand J Infect Dis. 2007;39(8):690–6.CrossRef
47.
go back to reference Carroll TP, O’Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, et al. The prevalence of alpha-1 antitrypsin deficiency in Ireland. Respir Res. 2011;12:91.CrossRef Carroll TP, O’Connor CA, Floyd O, McPartlin J, Kelleher DP, O'Brien G, et al. The prevalence of alpha-1 antitrypsin deficiency in Ireland. Respir Res. 2011;12:91.CrossRef
48.
go back to reference Kaczor MP, Sanak M, Libura-Twardowska M, Szczeklik A. The prevalence of alpha1-antitrypsin deficiency in a representative population sample from Poland. Respir Med. 2007;101:2520–5.CrossRef Kaczor MP, Sanak M, Libura-Twardowska M, Szczeklik A. The prevalence of alpha1-antitrypsin deficiency in a representative population sample from Poland. Respir Med. 2007;101:2520–5.CrossRef
51.
go back to reference Pasteur MC, Bilton D. Hill AT on behalf of the British Thoracic Society bronchiectasis (non-CF) guideline group British Thoracic Society guideline for non-CF bronchiectasis. Thorax. 2010;65:i1–i58.CrossRef Pasteur MC, Bilton D. Hill AT on behalf of the British Thoracic Society bronchiectasis (non-CF) guideline group British Thoracic Society guideline for non-CF bronchiectasis. Thorax. 2010;65:i1–i58.CrossRef
52.
go back to reference Vendrell M, de Gracia J, Olveira C, Martínez MA, Girón R, Máiz L, et al. Diagnosis and treatment of bronchiectasis. Spanish Society of Pneumology and Thoracic Surgery. Arch Bronconeumol. 2008;44(11):629–40.CrossRef Vendrell M, de Gracia J, Olveira C, Martínez MA, Girón R, Máiz L, et al. Diagnosis and treatment of bronchiectasis. Spanish Society of Pneumology and Thoracic Surgery. Arch Bronconeumol. 2008;44(11):629–40.CrossRef
53.
go back to reference Pulmonology Portuguese Society Bronchiectasis Study Group. Recommendations for aetiological diagnosis of bronchiectasis. Rev Port Pneumol (2006). 2016;22(4):222–35. Pulmonology Portuguese Society Bronchiectasis Study Group. Recommendations for aetiological diagnosis of bronchiectasis. Rev Port Pneumol (2006). 2016;22(4):222–35.
54.
go back to reference Polverino E, Goeminne PC, McDonnell MJ, Aliberti S, Marshall SE, Loebinger MR, et al. European Respiratory Society guidelines for the management of adult bronchiectasis. Eur Respir J. 2017;50:1700629.CrossRef Polverino E, Goeminne PC, McDonnell MJ, Aliberti S, Marshall SE, Loebinger MR, et al. European Respiratory Society guidelines for the management of adult bronchiectasis. Eur Respir J. 2017;50:1700629.CrossRef
55.
go back to reference Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, et al. Alpha-1 antitrypsin pi*Z gene frequency and pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017;12:561–9.CrossRef Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, et al. Alpha-1 antitrypsin pi*Z gene frequency and pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017;12:561–9.CrossRef
56.
go back to reference Hatipoğlu U, Stoller JK. α1-antitrypsin deficiency. Clin Chest Med. 2016;37(3):487–504.CrossRef Hatipoğlu U, Stoller JK. α1-antitrypsin deficiency. Clin Chest Med. 2016;37(3):487–504.CrossRef
57.
go back to reference Teschler H. Long-term experience in the treatment of α1-antitrypsin deficiency: 25 years of augmentation therapy. Eur Respir Rev. 2015;24(135):46–51.CrossRef Teschler H. Long-term experience in the treatment of α1-antitrypsin deficiency: 25 years of augmentation therapy. Eur Respir Rev. 2015;24(135):46–51.CrossRef
58.
go back to reference Stockley RA, Miravitlles M, Vogelmeier C, Alpha One International Registry (A.I.R.). Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach. Orphanet Journal of Rare Disease. 2013;8:149.CrossRef Stockley RA, Miravitlles M, Vogelmeier C, Alpha One International Registry (A.I.R.). Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach. Orphanet Journal of Rare Disease. 2013;8:149.CrossRef
59.
go back to reference Griese M, Latzin P, Kappler M, Weckerle K, Heinzlmaier T, Bernhardt T, et al. O1-antitrypsin inhalation reduces airway inflammation in cystic fibrosis patients. Eur Respir J. 2007;29:240–50.CrossRef Griese M, Latzin P, Kappler M, Weckerle K, Heinzlmaier T, Bernhardt T, et al. O1-antitrypsin inhalation reduces airway inflammation in cystic fibrosis patients. Eur Respir J. 2007;29:240–50.CrossRef
60.
go back to reference McElvaney N, Hubbard R, Birrer P, Chernick MS, Caplan DB, Frank MM, et al. Aerosol alpha-1 antitrypsin treatment for cystic fibrosis. Lancet. 1991;337:392–4.CrossRef McElvaney N, Hubbard R, Birrer P, Chernick MS, Caplan DB, Frank MM, et al. Aerosol alpha-1 antitrypsin treatment for cystic fibrosis. Lancet. 1991;337:392–4.CrossRef
61.
go back to reference Martin SL, Downey D, Bilton D, Keogan MT, Edgar J, Elborn JS, et al. Safety and efficacy of recombinant alpha(1)-antitrypsin therapy in cystic fibrosis. Pediatric Pulmonol. 2006;41:177–83.CrossRef Martin SL, Downey D, Bilton D, Keogan MT, Edgar J, Elborn JS, et al. Safety and efficacy of recombinant alpha(1)-antitrypsin therapy in cystic fibrosis. Pediatric Pulmonol. 2006;41:177–83.CrossRef
62.
go back to reference Chang AB, Bell SC, Torzillo PJ, King PT, Maguire GP, Byrnes CA, et al. Chronic suppurative lung disease and bronchiectasis in children and adults in Australia and new Zealand Thoracic Society of Australia and new Zealand guidelines. Med J Aust. 2015;202(3):130.CrossRef Chang AB, Bell SC, Torzillo PJ, King PT, Maguire GP, Byrnes CA, et al. Chronic suppurative lung disease and bronchiectasis in children and adults in Australia and new Zealand Thoracic Society of Australia and new Zealand guidelines. Med J Aust. 2015;202(3):130.CrossRef
Metadata
Title
Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement
Authors
Andrea Gramegna
Stefano Aliberti
Marco Confalonieri
Angelo Corsico
Luca Richeldi
Carlo Vancheri
Francesco Blasi
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Multidisciplinary Respiratory Medicine / Issue 1/2018
Electronic ISSN: 2049-6958
DOI
https://doi.org/10.1186/s40248-018-0153-4

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Multidisciplinary Respiratory Medicine 1/2018 Go to the issue
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.