Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: A Canadian Thoracic Society clinical practice guideline

Canadian Respiratory Journal

Volumn 19, Issue 2, 2012, Pages 109-116

  Marciniuk, Darcy D ^a   Hernandez, P ^b   Balter, M ^c   Bourbeau, J ^d   Chapman, K R ^d   Ford, G T ^e   Lauzon, J L ^e   Maltais, F ^f   O'Donnell, D E ^g   Goodridge, D ^a   Strange, C ^h   Cave, A J ⁱ   Curren, K ^j   Muthuri, S ^j  

^a UNIVERSITY OF SASKATCHEWAN   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF CALGARY   (Canada)

^f UNIVERSITÉ LAVAL   (Canada)

^g QUEEN S UNIVERSITY   (Canada)

^h MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

ⁱ UNIVERSITY OF ALBERTA   (Canada)

^j Canadian Lung Association   (Canada)

more..

Author keywords

Alpha 1 antitrypsin; Augmentation therapy; COPD; Deficiency; Emphysema

Indexed keywords

ALPHA 1 ANTITRYPSIN;

AGE; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; CASE MANAGEMENT; CHILL; CHRONIC OBSTRUCTIVE LUNG DISEASE; COCHRANE LIBRARY; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DISEASE EXACERBATION; DIZZINESS; DRUG FEVER; DRUG INDUCED HEADACHE; DRUG WITHDRAWAL; DYSPNEA; EMBASE; EMPHYSEMA; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; HEPATITIS; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; MEDLINE; MORBIDITY; MORTALITY; PHARMACEUTICAL CARE; PRACTICE GUIDELINE; PRIORITY JOURNAL; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; RISK FACTOR; SELF CARE; SMOKING; SMOKING CESSATION; SPIROMETRY; SYSTEMATIC REVIEW; VACCINATION;

EID: 84861316814     PISSN: 11982241     EISSN: None     Source Type: Journal    
DOI: 10.1155/2012/920918     Document Type: Review

References (52)

1. Ford GT, Chapman KR, Standards Committee of the Canadian Thoracic Society. Alpha1-antitrypsin deficiency: A position statement of the Canadian Thoracic Society. Can Respir J 2001;8:81-8. (Pubitemid 32496355)
2. 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;168:818-900.
3. Hersh CP, Dahl M, Ly NP, Berkey CS, Nordestgaard BG, Silverman EK. Chronic obstructive pulmonary disease in α1-antitrypsin PI MZ heterozygotes: A meta-analysis. Thorax 2004;59:843-9. (Pubitemid 39389623)
4. Sverger T. Alpha-1-antitrypsin deficiency in early childhood. Pediatrics 1978;62:22-5.
5. deSerres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest 2002;122:1818-29.
6. Laurell CB, Eriksson S. The electrophoretic alpha-globulin pattern of serum in alpha-1-antitrypsin deficiency. Scand J Clin Lab Invest 1963;15:132-40.
7. Sveger T. Liver disease in alpha-1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294:1316-21.
8. Eriksson S, Carison J, Velez R. Risks for cirrhosis and primary liver cancer in alpha-1-antitrypsin deficiency. N Engl J Med 1986;314:736-9. (Pubitemid 16124387)
9. Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med 1987;316:1055-62. (Pubitemid 17047294)
10. Ad Hoc Committee on Alpha-1-Antitrypsin Replacement Therapy of the Standards Committee, Canadian Thoracic Society. Current status of alpha-1-antitrypsin replacement therapy: Recommendations for the management of patients with severe hereditary deficiency. CMAJ 1992;146:841-4.
11. 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 2010;7:CD007851.
12. Chen S, Farahati F, Marciniuk D, Mayers I, Boudreau R, Keating T. Human Alpha 1-Proteinase Inhibitor for Patients with Alpha 1-Antitrypsin Deficiency (Technology Report No. 74). Ottawa: Canadian Agency for Drugs and Technologies in Health; 2007.
13. O'Donnell DE, Aaron S, Bourbeau J, et al. Canadian Thoracic Society recommendations for management of chronic obstructive pulmonary disease - 2007 update. Can Respir J 2007;14:5B-32B. (Pubitemid 350090390)
14. O'Donnell DE, Hernandez P, Kaplan A, et al. Canadian Thoracic Society Recommendations for Management of Chronic Obstructive Pulmonary Disease - 2008 update - highlights for primary care. Can Respir J 2008;15(Suppl A):1A-8A. (Pubitemid 351566057)
15. Rabe KF, Hurd S, Anzueto A, et al Global Initiative for Chronic Obstructive Lung Disease. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am J Respir Crit Care Med 2007;176:532-5.
16. Brouwers M, Kho KE, Browman GP, et al AGREE Next Step Consortium. AGREE II: Advancing guideline development, reporting, and evaluation in healthcare. CMAJ 2010;182:E839-42.
17. Guyatt G, Gutterman D, Baumann M, et al. Grading strength of recommendations and quality of evidence in clinical guidelines: Report from an American College of Chest Physicians Task Force. Chest 2006;129:178-81.
18. Harbour R, Miller J. A new system for grading recommendations in evidence based guidelines. BMJ 2001;323:334-6. (Pubitemid 32744465)
19. Ries AL, Bauldoff GS, Carlin BW, et al. Pulmonary rehabilitation. Joint ACCP/AACVPR evidence-based clinical practice guidelines. Chest 2007;131:4S-42S. (Pubitemid 46744215)
20. 1- Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest 2010;138:1125-32.
21. Wencker M, Marx A, Konietzko N, Schaefer B, Campbell EJ. Screening for alpha1-Pi deficiency in patients with lung diseases. Eur Respir J 2002;20:319-24.
22. Seersholm N, Wilcke JT, Kok-Jensen A, Dirksen A. Risk of hospital admission for obstructive pulmonary disease in alpha(1)-antitrypsin heterozygotes of phenotype PiMZ. Am J Respir Crit Care Med 2000;161:81-4. (Pubitemid 30055906)
23. Eden E, Holbrook JT, Brantly ML, Turino GM, Wise RA. Prevalence of alpha-1 antitrypsin deficiency in poorly controlled asthma - results from the ALA-ACRC low-dose theophylline trial. J Asthma 2007;44:605-8. (Pubitemid 47621470)
24. van Veen IH, ten Brinke A, van der Linden AC, Rabe KF, Bel EH. Deficient alpha-1-antitrypsin phenotypes and persistent airflow limitation in severe asthma. Respir Med 2006;100:1534-9. (Pubitemid 44089367)
25. Sansom ME, Ferry BL, Sherrell ZP, Chapel HM. A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis. Clin Exp Immunol 2002;130:489-94. (Pubitemid 35418333)
26. Cuvelier A, Muir JF, Hellot MF, et al. Distribution of alpha(1)-antitrypsin alleles in patients with bronchiectasis. Chest 2000;117:415-9. (Pubitemid 30111592)
27. Parr DG, Guest PG, Reynolds JH, Dowson LJ, Stockley RA. Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2007;176:1215-21. (Pubitemid 350256475)
28. Yang P, Sun Z, Krowka MJ, et al. Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk. Arch Intern Med 2008;168:1097-103. (Pubitemid 351749227)
29. Yang P, Wentzlaff KA, Katzmann JA, et al. Alpha1-antitrypsin deficiency allele carriers among lung cancer patients. Cancer Epidemiol Biomarkers Prev 1999;8:461-5. (Pubitemid 29230552)
30. Banauch GI, Brantly M, Izbicki G, et al. Accelerated spirometric decline in New York City firefighters with α1-antitrypsin deficiency. Chest 2010; 138:1116-24.
31. Lougheed MD, Lemière C, Dell SD, et al Canadian Thoracic Society Asthma Committee. Canadian Thoracic Society Asthma Management Continuum - 2010 Consensus Summary for children six years of age and over, and adults. Can Respir J 2010;17:15-24.
32. Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy: Systematic review. Dan Med Bul 2010;57:A4175.
33. 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;160:1468-72.
34. Dirksen A, Piitulainen E, Parr DG, et al. Exploring the role of CT densitometry: A randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 2009;33:1345-53.
35. Stockley RA, Parr DG, Piitulainen E, Stolk J, Stoel BC, Dirksen A. Therapeutic efficacy of a-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;11:136-44.
36. Chapman KR, Stockley RA, Dawkins C, Wilkes MM, Navickis RJ. Augmentation therapy for alpha1 antitrypsin deficiency: A meta-analysis. COPD 2009;6:177-84.
37. 1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J 1997;10:2260-3.
38. 1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med 1998;158:49-59.
39. Wencker M, Banik N, Buhl R, Seidel R, Konietzko N. Long-term treatment of alpha1-antitrypsin deficiency-related pulmonary emphysema with human alpha1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-alpha1-AT-study group. Eur Respir J 1998;11:428-33.
40. Stoller JK, Fallat R, Schluchter MD, et al. Augmentation therapy with alpha1-antitrypsin: Patterns of use and adverse events. Chest 2003;123:1425-34. (Pubitemid 36549759)
41. Gould GA, MacNee W, McLean A, et al. CT measurements of lung density in life can quantitate distal airspace enlargement - an essential defining feature of human emphysema. Am Rev Respir Dis 1988;137:380-92. (Pubitemid 18050189)
42. Tanabe N, Muro S, Hirai T, et al. Impact of exacerbations on emphysema progression in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2011;183:1653-9.
43. Dowson LJ, Guest PJ, Hill SL, Holder RL, Stockley RA. High-resolution computed tomography scanning in alpha1- antitrypsin deficiency: Relationship to lung function and health status. Eur Respir J 2001;17:1097-104. (Pubitemid 32717464)
44. Dawkins PA, Dowson LJ, Guest PJ, Stockley RA. Predictors of mortality in alpha1-antitrypsin deficiency. Thorax 2003;58:1020-6.
45. Dirksen A, Piitulainen E, Parr DG, et al. Exploring the role of CT densitometry: A randomized study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 2009;33:1345-53.
46. Mascalchi M, Diciotti S, Sverzellati N, et al. Low agreement of visual rating for detailed quantification of pulmonary emphysema in whole-lung CT. Acta Radiol 2012;53:53-60.
47. Marciniuk DD, Goodridge D, Hernandez P, et al. Managing dyspnea in patients with advanced chronic obstructive pulmonary disease: A Canadian Thoracic Society clinical practice guideline. Can Respir J 2011;18:69-78.
48. Zorzetto M, Russi E, Senn O, et al SAPALDIA Team. SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 2008;54:1331-8.
49. Abboud RT, Nelson TN, Jung B, Mattman A. Alpha1-antitrypsin deficiency: A clinical-genetic overview. Appl Clin Genet 2011;4:55-65.
50. Sandhaus RA. Alpha-1 antitrypsin deficiency: Whom to test, whom to treat? Semin Respir Crit Care Med 2010;31:343-7.
51. Janciauskiene S, Ferrarotti I, Laenger F, Jonigk D, Luisetti M. Clinical utility gene card for a-1-antitrypsin deficiency. Eur J Hum Genet 2011; doi:19:10.1038/ejhg.2010.246.
52. Silverman EK, Sandhaus RA. Alpha1-antitrypsin deficiency. N Engl J Med 2009;360:2749-57.