Alpha-1 antitrypsin deficiency

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.Full text  Abstract

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.Full text  Abstract

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 Mar-Apr;19(2):109-16.Full text  Abstract

Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Full text  Abstract

Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.Full text  Abstract

1. Fagerhol MK, Laurell CB. The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. Clin Chim Acta. 1967 May;16(2):199-203. Abstract

2. DeMeo DL, Silverman EK. Alpha 1-antitrypsin deficiency. 2: genetic aspects of alpha 1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004;59:259-64.Full text  Abstract

3. Laurell CB, Eriksson S. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand J Clin Lab Invest. 1963;15:132-140.

4. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha 1-antitrypsin deficiency. Am J Med. 1988;84:13-31. Abstract

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.Full text  Abstract

6. Turino GM, Barker AF, Brantly ML, et al. Clinical features of individuals with PI*SZ phenotype of alpha-1 antitrypsin deficiency: alpha 1-antitrypsin deficiency registry study group. Am J Respir Crit Care Med. 1996;154:1718-1725. Abstract

7. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α₁-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

10. Wiedemann HP, Stoller JK. Lung disease due to alpha-1 antitrypsin deficiency. Curr Opin Pulm Med. 1996;2:155-160. Abstract

11. Ranes J, Stoller JK. A review of alpha-1 antitrypsin deficiency. Semin Respir Crit Care Med. 2005;26:154-166. Abstract

12. Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012 Feb 1;185(3):246-59.Full text  Abstract

13. Sveger T. Liver disease in alpha 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976 Jun 10;294(24):1316-21. Abstract

14. de Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet. 2003;64:382-97. Abstract

15. de Serres FJ. Worldwide racial and ethnic distribution of alpha-1 antitrypsin deficiency. Chest. 2002;122:1818-29. Abstract

16. Blanco I, de Serres FJ, Cárcaba V, et al. Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method. Hepat Mon. 2012 Oct;12(10):e7434.Full text  Abstract

17. Blanco I, Diego I, Bueno P, et al. Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review. Eur Respir Rev. 2020 Sep;29(157): 200014.Full text  Abstract

18. Ashenhurst JR, Nhan H, Shelton JF, et al. Prevalence of alpha-1 antitrypsin deficiency, self-reported behavior change, and health care engagement among direct-to-consumer recipients of a personalized genetic risk report. Chest. 2022 Feb;161(2):373-81.Full text  Abstract

19. Kueppers F, Fallat R, Larson RK. Obstructive lung disease and alpha-1 antitrypsin deficiency gene heterozygosity. Science. 1969;165:899-901. Abstract

20. Kueppers F, Black LF. Alpha-1 antitrypsin and its deficiency. Am Rev Respir Dis. 1974;110:176-194. Abstract

21. Tobin MJ, Cook PJ, Hutchison DC. Alpha-1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi-type-Z. A survey by the British Thoracic Association. Br J Dis Chest. 1983;77:14-27. Abstract

22. Seersholm N, Kok-Jensen A, Dirksen A. Decline in FEV1 among patients with severe hereditary alpha-1 antitrypsin deficiency type Pi Z. Am J Respir Crit Care Med. 1995;152:1922-1925. Abstract

23. Larsson C. Natural history and life expectancy in severe alpha 1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204:345-351. Abstract

24. Ghishan FK, Gray GF, Greene HL. alpha 1-antitrypsin deficiency presenting with ascites and cirrhosis in the neonatal period. Gastroenterology. 1983 Aug;85(2):435-8. Abstract

25. Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology. 1995 Aug;22(2):514-7.Full text  Abstract

26. Eriksson S. Alpha 1-antitrypsin deficiency: natural course and therapeutic strategies. In: Boyer J, Blum HE, Maier KP, et al, eds. Cirrhosis and its development. Falk Symposium 115. Dordrecht, Netherlands: Kluwer Academic; 2000:307-315.

27. Hamesch K, Mandorfer M, Pereira VM, et al. Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology. 2019 Sep;157(3):705-719.e18.Full text  Abstract

28. Clark VC, Marek G, Liu C, et al. Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. J Hepatol. 2018 Dec;69(6):1357-1364.Full text  Abstract

29. Strnad P, McElvaney NG, Lomas DA. Alpha 1-Antitrypsin Deficiency. N Engl J Med. 2020 Apr 9;382(15):1443-55.Full text  Abstract

30. Alam S, Li Z, Atkinson C, et al. Z α1-antitrypsin confers a proinflammatory phenotype that contributes to chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2014;189:909-931. Abstract

31. Molloy K, Hersh CP, Morris VB, et al. Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014;189:419-427.Full text  Abstract

32. Sorheim IC, Bakke P, Gulsvik A, et al. Alpha-1 antitrypsin protease inhibitor MZ heterozygosity is associated with airflow disruption in two large cohorts. Chest. 2010;138:1125-1132.Full text  Abstract

33. Kopito RR, Ron D. Conformational disease. Nat Cell Biol. 2000;2:E207-E209. Abstract

34. Lomas DA, Mahadeva R. Alpha-1 antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest. 2002;110:1585-1590. Abstract

35. Mahadeva R, Shapiro SD. Chronic obstructive pulmonary disease 3: experimental animal models of pulmonary emphysema. Thorax. 2002;57:908-914.Full text  Abstract

36. Shapiro SD. Proteinases in chronic obstructive pulmonary disease. Biochem Soc Trans. 2002:30:98-102. Abstract

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.Full text  Abstract

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 Mar-Apr;19(2):109-16.Full text  Abstract

39. Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Full text  Abstract

40. Silverman EK, Miletich JP, Pierce JA, et al. Alpha-1 antitrypsin deficiency: high prevalence in the St. Louis area determined by direct population screening. Am Rev Respir Dis. 1989;140:961-966. Abstract

41. Stoller JK, Smith P, Yang P, et al. Physical and social impact of alpha-1 antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994;61:461-467. Abstract

42. World Health Organization. Alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75:397-415. Abstract

43. Eriksson S, Carlson J, Velez R. Risks for cirrhosis and primary liver cancer in alpha-1 antitrypsin deficiency. N Engl J Med. 1986;314:736-739. Abstract

44. Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for prevention, diagnosis and management of COPD: 2024 report. 2024 [internet publication].Full text

45. Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha-1-antitrypsin deficiency. Lancet. 1985;1:152-4. Abstract

46. Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ. J Clin Epidemiol. 1988;41:1157-1165. Abstract

47. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha-1 antitrypsin deficiency (PiZZ). Eur Respir J. 1999;13:247-251.Full text  Abstract

48. Piitulainen E, Tornling G, Eriksson S. Effect of age and occupational exposure to airway irritants on lung function in non-smoking individuals with alpha-1 antitrypsin deficiency (PiZZ). Thorax. 1997;52:244-248.Full text  Abstract

49. Piitulainen E, Tornling G, Eriksson S. Environmental correlates of impaired lung function in non-smokers with severe alpha-1 antitrypsin deficiency (PiZZ). Thorax. 1998;53:939-943.Full text  Abstract

50. Silverman EK, Pierce JA, Province MA, et al. Variability of pulmonary function in alpha-1 antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111:982-991. Abstract

51. Piitulainen E, Sveger T. Effect of environmental and clinical factors on lung function and respiratory symptoms in adolescents with alpha-1 antitrypsin deficiency. Acta Paediatr. 1998;87:1120-1124. Abstract

52. Guillaud O, Dumortier J, Couchonnal-Bedoya E, et al. Wilson disease and alpha1-antitrypsin deficiency: a review of non-invasive diagnostic tests. Diagnostics (Basel). 2023 Jan 10;13(2):256.Full text  Abstract

53. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication]. Full text

54. Clark VC, Dhanasekaran R, Brantly M, et al. Liver test results do not identify liver disease in adults with alpha-1 antitrypsin deficiency. Clin Gastroenterol Hepatol. 2012;10:1278-1283. Abstract

55. McElvaney NG, Stoller JK, Buist AS, et al. Alpha-1 antitrypsin deficiency study group. Baseline characteristics of enrollees in the National Heart, Lung, and Blood Institute Registry of alpha-1 antitrypsin deficiency. Chest. 1997;111:394-403. Abstract

56. Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma and emphysema in patients with severe alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 1997 Jul;156(1):68-74. Abstract

57. Lomas DA, Evans DL, Finch JT. The mechanism of Z alpha-1 antitrypsin accumulation in the liver. Nature. 1992;357:605-607. Abstract

58. 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.Full text  Abstract

59. Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111:458-464. Abstract

60. American Thoracic Society. Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease. Am J Resp Crit Care Med. 1995;152(suppl):S77-S121. Abstract

61. Dirksen A, Dijkman JH, Madsen F, et al. A randomized clinical trial of alpha 1-antitrypsin augmentation therapy. Am J Respir Crit Care Med. 1999;160:1468-1472. Abstract

62. Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha 1-antitrypsin. Am J Respir Crit Care Med. 1998;158:49-59. Abstract

63. Wencker M, Banik N, Buhl R, et al. Long-term treatment of alpha 1-antitrypsin deficiency-related pulmonary emphysema with human alpha 1-antitrypsin. Eur Respir J. 1998;11:428-433.Full text  Abstract

64. Seersholm N, Wencker M, Banik N, et al; Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha 1-AT study group. Does alpha 1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha 1-antitrypsin deficiency? Eur Respir J. 1997;10:2260-2263.Full text  Abstract

65. Chapman KR, Stockley RA, Dawkins C, et al. Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD. 2009;6:177-184. Abstract

66. Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev. 2016 Sep 20;9:CD007851.Full text  Abstract

67. Stockley RA, Parr DG, Piitulainen E, 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;11:136-143.Full text  Abstract

68. Barros-Tizon JC, Torres ML, Blanco I, et al; Investigators of the rEXA Study Group. Reduction of severe exacerbations and hospitalization-derived costs in alpha-1-antitrypsin-deficient patients treated with alpha-1-antitrypsin augmentation therapy. Ther Adv Respir Dis. 2012;6:67-78. Abstract

69. Mohanka M, Khemasuwan D, Stoller JK. A review of augmentation therapy for alpha-1 antitrypsin deficiency. Expert Opin Biol Ther. 2012;12:685-700. Abstract

70. Chapman KR, Burdon JG, Piitulainen E, et al; RAPID Trial Study Group. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386:360-368. Abstract

71. Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.Full text  Abstract

72. Gadek JE, Klein HG, Holland PV, et al. Replacement therapy of alpha 1-antitrypsin deficiency: reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981;68:1158-1165.Full text  Abstract

73. Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316:1055-1062. Abstract

74. Barker AF, Iwata-Morgan I, Oveson L, et al. Pharmacokinetic study of alpha 1-antitrypsin infusion in alpha 1-antitrypsin deficiency. Chest. 1997;112:607-613. Abstract

75. Hubbard RC, Sellers S, Czerski D, et al. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988;260:1259-1264. Abstract

76. Yusen RD, Edwards LB, Dipchand AI, et al. The Registry of the International Society for Heart and Lung Transplantation: Thirty-third adult lung and heart-lung transplant report-2016; Focus theme: primary diagnostic indications for transplant. J Heart Lung Transplant. 2016 Oct;35(10):1170-84.Full text  Abstract

77. Stone HM, Edgar RG, Thompson RD, et al. Lung transplantation in alpha-1-antitrypsin deficiency. COPD. 2016;13(2):146-52.Full text  Abstract

78. Carey EJ, Iyer VN, Nelson DR, et al. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. Liver Transpl. 2013;19:1370-1376. Abstract

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82. Hubbard RC, Crystal RG. Strategies for aerosol therapy of alpha 1-antitrypsin deficiency by the aerosol route. Lung. 1990;168 (Suppl):565-578. Abstract

83. Stolk J, Camps J, Feitsma HI, et al. Pulmonary deposition and disappearance of aerosolised secretory leucocyte protease inhibitor. Thorax. 1995;50:645-650. Abstract

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85. Llewellyn-Jones CG, Lomas DA, Stockley RA. Potential role of recombinant secretory leucoprotease inhibitor in the prevention of neutrophil mediated matrix degradation. Thorax. 1994;49:567-72. Abstract

86. American Thoracic Society. INBRX-101: a novel recombinant AAT-Fc fusion protein that achieves normal serum AAT levels with extended interval dosing for patients with alpha-1 antitrypsin deficiency.​ May 2022 [internet publication].Full text

87. Sandhaus RA. alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax. 2004 Oct;59(10):904-9.Full text  Abstract

88. Clinicaltrials.gov. Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency (ATALANTa): NCT03679598. Jun 2020 [internet publication].Full text

89. Kolodka TM, Finehold M, Woo SL. Hepatic gene therapy: efficient retroviral-mediated gene transfer into rat hepatocytes in vivo. Somat Cell Mol Genet. 1993;19:491-497. Abstract

90. Song S, Morgan M, Ellis T, et al. Sustained secretion of human alpha-1 antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci USA. 1998;95:14384-14388.Full text  Abstract

91. Narayanan P, Mistry PK. Update on Alpha-1 Antitrypsin Deficiency in Liver Disease. Clin Liver Dis (Hoboken). 2020 Jun;15(6):228-235.Full text  Abstract

92. Wooddell CI, Blomenkamp K, Peterson RM, et al. Development of an RNAi therapeutic for alpha-1-antitrypsin liver disease. JCI Insight. 2020 Jun 18;5(12):.Full text  Abstract

93. Stoller JK, Gildea TR, Ries AL, et al. Lung volume reduction surgery in patients with emphysema and alpha-1 antitrypsin deficiency. Ann Thoracic Surg. 2007;83:241-251. Abstract

94. Criner GJ, Delage A, Voelker K, et al. Improving Lung Function in Severe Heterogenous Emphysema with the Spiration Valve System (EMPROVE). A Multicenter, Open-Label Randomized Controlled Clinical Trial. Am J Respir Crit Care Med. 2019 Dec 1;200(11):1354-1362.Full text  Abstract

95. Hogarth DK, Delage A, et al. Evaluation of the Safety and Effectiveness of the Spiration Valve System for Single Lobe Treatment of Severe Emphysema in Patients with Alpha-1 Antitrypsin Deficiency. Paper presented at: American Thoracic Society International Conference. 2018. San Diego, United States of America.Full text

96. Criner GJ, Sue R, Wright S, et al. A Multicenter Randomized Controlled Trial of Zephyr Endobronchial Valve Treatment in Heterogeneous Emphysema (LIBERATE). Am J Respir Crit Care Med. 2018 Nov 1;198(9):1151-1164.Full text  Abstract

97. Dawkins PA, Dowson LJ, Guest PJ, et al. Predictors of mortality in alpha 1-antitrypsin deficiency. Thorax. 2003;58:1020-1026.Full text  Abstract

98. Seersholm N, Dirksen A, Kok-Jensen A. Airways obstruction and two-year survival in patients with severe alpha-1 antitrypsin deficiency. Eur Respir J. 1994;7:1985-1987. Abstract

99. Singal AG, Llovet JM, Yarchoan M, et al. AASLD practice guidance on prevention, diagnosis, and treatment of hepatocellular carcinoma. Hepatology. 2023 Dec 1;78(6):1922-65.Full text

100. Elzouki AN, Segelmark M, Wieslander J, et al. Strong link between the alpha1-antitrypsin PiZ allele and Wegener's granulomatosis. J Intern Med. 1994 Nov;236(5):543-8. Abstract

101. Lhotta K, Vogel W, Meisl T, et al. Alpha1-antitrypsin phenotypes in patients with anti-neutrophil cytoplasmic antibody-positive vasculitis. Clin Sci (Lond). 1994 Dec;87(6):693-5. Abstract

102. Segelmark M, Elzouki AN, Wieslander J, et al. The PiZ gene of alpha1-antitrypsin as a determinant of outcome in PR3-ANCA-positive vasculitis. Kidney Int. 1995 Sep;48(3):844-50. Abstract