α1 Antitrypsin deficiency: Current best practice in testing and augmentation therapy

Therapeutic Advances in Respiratory Disease

Volumn 8, Issue 5, 2014, Pages 150-161

  Campos, Michael A ^a   Lascano, Jorge ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Alpha 1 antitrypsin; Alpha 1 antitrypsin deficiency; augmentation therapy; COPD; genetic testing

Indexed keywords

ALPHA 1 ANTITRYPSIN; BIOLOGICAL MARKER; ELASTIN;

ALPHA 1-ANTITRYPSIN DEFICIENCY; COMPLICATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; EMPHYSEMA; GENOTYPE; HUMAN; LIVER CIRRHOSIS; PATHOPHYSIOLOGY; PERSONALIZED MEDICINE; PHENOTYPE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; AIRWAY OBSTRUCTION; ALPHA 1 ANTITRYPSIN DEFICIENCY; CHRONIC OBSTRUCTIVE LUNG DISEASE; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; INFLAMMATION; LABORATORY DIAGNOSIS; LUNG EMPHYSEMA; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SIBLING; SUBSTITUTION THERAPY;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; DISEASE PROGRESSION; EMPHYSEMA; GENOTYPE; HUMANS; INDIVIDUALIZED MEDICINE; LIVER CIRRHOSIS; PHENOTYPE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84910100438     PISSN: 17534658     EISSN: 17534666     Source Type: Journal    
DOI: 10.1177/1753465814542243     Document Type: Review

References (74)

1. American Thoracic Society/European Respiratory Society (2003) 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 168: 818–900.
2. Barr R. Celli B. Martinez F. Ries A. Rennard S. Reilly J. Jr. (2005) Physician and patient perceptions in COPD: the COPD Resource Network Needs Assessment Survey. Am J Med 118: 1415.
3. Bergin D. Reeves E. Hurley K. Wolfe R. Jameel R. Fitzgerald S. (2014) The circulating proteinase inhibitor alpha-1 antitrypsin regulates neutrophil degranulation and autoimmunity. Sci Transl Med 6: 217ra211.
4. Bergin D. Reeves E. Meleady P. Henry M. McElvaney O. Carroll T. (2010) Alpha-1 antitrypsin regulates human neutrophil chemotaxis induced by soluble immune complexes and IL-8. J Clin Invest 120: 4236–4250.
5. Bowlus C. Willner I. Zern M. Reuben A. Chen P. Holladay B. (2005) Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol 3: 390–396.
6. Brantly M. (1991) Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. CHEST Journal 100: 703.
7. Campos M. Alazemi S. Zhang G. Salathe M. Wanner A. Sandhaus R. (2009a) Clinical characteristics of subjects with symptoms of alpha1-antitrypsin deficiency older than 60 years. Chest 135: 600–608.
8. Campos M. Alazemi S. Zhang G. Wanner A. Salathe M. Baier H. (2009b) Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy. Respir Med 103: 1532–1539.
9. Campos M. Hagenlocker B. Martinez N. Lupena H. Caceres F. Gallo De Moraes A. (2011) Impact of an electronic medical record clinical reminder to improve detection of COPD and alpha-1 antitrypsin deficiency in the Veterans Administration system. Am J Respir Crit Care Med 183: A5356.
10. Campos M. Kueppers F. Stocks J. Strange C. Chen J. Griffin R. (2013) Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha-1 proteinase inhibitor in alpha-1 antitrypsin deficiency: a multicenter, randomized, double-blind, crossover study (SPARK). COPD 10: 687–695.
11. Campos M. Shmuels D. Walsh J. (2012) Detection of alpha-1 antitrypsin deficiency in the US. Am J Med 125: 623–624.
12. Campos M.A. Wanner A. Zhang G. Sandhaus R.A. (2005) Trends in the Diagnosis of Symptomatic Patients with Alpha1-Antitrypsin Deficiency between 1968 and 2003. Chest 128: 1179–1186.
13. Chapman K. (2013) IV alpha1 antitrypsin (A1AT) preserves lung density in homozygous alpha1 antitrypsin deficiency (A1ATD); a randomized, placebo-controlled trial. Am J Respir Crit Care Med 187: A6069.
14. Chapman K. Bradi A. Paterson D. Navickis R. Wilkes M. (2005) Slower lung function decline during augmentation therapy in patients with alpha-1 antitrypsin deficiency: results from the Canadian Air Registry. Proc Am Thorac Soc 2: A808.
15. Chapman K. Burdon J. Piitulainen E. Sandhaus R. Seersholm N. Stocks J. (2013) IV alpha1 antitrypsin (A1AT) preserves lung density in homozygous alpha1 antitrypsin deficiency (A1ATD): a randomized, placebo-controlled trial. Am J Respir Crit Care Med 187: A6069.
16. Chapman K. Stockley R. Dawkins C. Wilkes M. Navickis R. (2009) Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD 6: 177–184.
17. Costa X. Jardi R. Rodriguez F. Miravitlles M. Cotrina M. Gonzalez C. (2000) Simple method for alpha1-antitrypsin deficiency screening by use of dried blood spot specimens. Eur Respir J 15: 1111–1115.
18. Dawkins P. Dowson L. Guest P. Stockley R. (2003) Predictors of mortality in alpha1-antitrypsin deficiency. Thorax 58: 1020–1026.
19. Demeo D. Sandhaus R. Barker A. Brantly M. Eden E. McElvaney N. (2007) Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax 62: 806–813.
20. De Serres F. (2002) Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 122: 1818–1829.
21. De Serres F. Blanco I. Fernandez-Bustillo E. (2003a) 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 64: 382–397.
22. De Serres F. Blanco I. Fernandez-Bustillo E. (2003b) Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. Clin Genet 63: 490–509.
23. Dirksen A. Dijkman J. Madsen F. Stoel B. Hutchison D. Ulrik C. (1999) A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy. Am J Respir Crit Care Med 160: 1468–1472.
24. Dirksen A. Piitulainen E. Parr D. Deng C. Wencker M. Shaker S. (2009) Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 33: 1345–1353.
25. Dowson L. Newall C. Guest P. Hill S. Stockley R. (2001) Exercise capacity predicts health status in alpha(1)-antitrypsin deficiency. Am J Respir Crit Care Med 163: 936–941.
26. Eriksson S. (1964) Pulmonary emphysema and alpha1-antitrypsin deficiency. Acta Med Scand 175: 197–205.
27. Ferrarotti I. Thun G. Zorzetto M. Ottaviani S. Imboden M. Schindler C. (2012) Serum levels and genotype distribution of alpha1-antitrypsin in the general population. Thorax 67: 669–674.
28. Fregonese L. Ferrari F. Fumagalli M. Luisetti M. Stolk J. Iadarola P. (2011) Long-term variability of desmosine/isodesmosine as biomarker in alpha-1-antritrypsin deficiency-related COPD. COPD 8: 329–333.
29. Gadek J. Klein H. Holland P. Crystal R. (1981) Replacement therapy of alpha 1-antitrypsin deficiency. reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest 68: 1158–1165.
30. Gotzsche P. Johansen H. (2010) Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung Disease. Cochrane Database Syst Rev 7: CD007851.
31. Greene C. McElvaney N. (2010) Protein misfolding and obstructive lung disease. Proc Am Thorac Soc 7: 346–355.
32. Greene D. Elliott-Jelf M. Straseski J. Grenache D. (2013) Facilitating the laboratory diagnosis of alpha1-antitrypsin deficiency. Am J Clin Pathol 139: 184–191.
33. Greulich T. Ottaviani S. Bals R. Lepper P. Vogelmeier C. Luisetti M. (2013) Alpha1-antitrypsin deficiency ’ diagnostic testing and disease awareness in Germany and Italy. Respir Med 107: 1400–1408.
34. Gross B. Grebe M. Wencker M. Stoller J. Bjursten L. Janciauskiene S. (2009) New findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. demonstration of skin polymers and high dosing requirements of intravenous augmentation therapy. Dermatology 218: 370–375.
35. Jain A. McCarthy K. Xu M. Stoller J. (2011) Impact of a clinical decision support system in an electronic health record to enhance detection of alpha-antitrypsin deficiency. Chest 140: 198–204.
36. Jonigk D. Al-Omari M. Maegel L. Muller M. Izykowski N. Hong J. (2013) Anti-inflammatory and immunomodulatory properties of alpha1-antitrypsin without inhibition of elastase. Proc Natl Acad Sci U S A 110: 15007–15012.
37. Laurell C. Eriksson S. (1963) The electrophoretic A1-globulin pattern of serum in A1-antitrypsin deficiency. Scand J Clin Lab Invest 15: 132–140.
38. Lomas D. (2004)1-Antitrypsin deficiency * 4: molecular pathophysiology. Thorax 59: 529–535.
39. Lomas D. Parfrey H. (2004) Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax 59: 529–535.
40. Luisetti M. Seersholm N. (2004) Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax 59: 164–169.
41. Ma S. Lin Y. He J. Rouhani F. Brantly M. Turino G. (2013) Alpha-1 antitrypsin augmentation therapy and biomarkers of elastin degradation. COPD 10: 473–481.
42. Ma S. Lin Y. Turino G. (2007) Measurements of desmosine and isodesmosine by mass spectrometry in COPD. Chest 131: 1363–1371.
43. Mahr A. Edberg J. Stone J. Hoffman G. St Clair E. Specks U. (2010) Alpha(1)-antitrypsin deficiency-related alleles z and s and the risk of Wegener—s granulomatosis. Arthritis and rheumatism 62: 3760–3767.
44. Mayer A. Stoller J. Vedal S. Ruttenber A. Strand M. Sandhaus R. (2006) Risk factors for symptom onset in Pi*Z alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis 1: 485–492.
45. Miravitlles M. Herr C. Ferrarotti I. Jardi R. Rodriguez-Frias F. Luisetti M. (2010) Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres. Eur Respir J 35: 960–968.
46. Nelson D. Teckman J. Di Bisceglie A. Brenner D. (2012) Diagnosis and management of patients with alpha(1)-antitrypsin (A1AT) deficiency. Clin Gastroenterol Hepatol 10: 575–580.
47. Parr D. Guest P. Reynolds J. Dowson L. Stockley R. (2007) Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 176: 1215–1221.
48. Parr D. Stoel B. Stolk J. Stockley R. (2004) Pattern of emphysema distribution in alpha1-antitrypsin deficiency influences lung function impairment. Am J Respir Crit Care Med 170: 1172–1178.
49. Petrache I. Fijalkowska I. Zhen L. Medler T. Brown E. Cruz P. (2006) A novel antiapoptotic role for alpha1-antitrypsin in the prevention of pulmonary emphysema. Am J Respir Crit Care Med 173: 1222–1228.
50. Piitulainen E. Eriksson S. (1999) Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J 13: 247–251.
51. Rahaghi F. Ortega I. Rahaghi N. Oliveira E. Ramirez J. Smolley L. (2009) Physician alert suggesting alpha-1 antitrypsin deficiency testing in pulmonary function test (PFT) results. COPD 6: 26–30.
52. Rodriguez-Frias F. Miravitlles M. Vidal R. Camos S. Jardi R. (2012) Rare alpha-1-antitrypsin variants: are they really so rare? Ther Adv Respir Dis 6: 79–85.
53. Rouhani F. Paone G. Smith N. Krein P. Barnes P. Brantly M. (2000) Lung neutrophil burden correlates with increased pro-inflammatory cytokines and decreased lung function in individuals with alpha(1)-antitrypsin deficiency. Chest 117: 250S–251S.
54. Seersholm N. Kok-Jensen A. Dirksen A. (1994) Survival of patients with severe alpha 1-antitrypsin deficiency with special reference to non-index cases. Thorax 49: 695–698.
55. Seersholm N. Wencker M. Banik N. Viskum K. Dirksen A. Kok-Jensen A. (1997) Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft Zur Therapie Von Lungenerkrankungen (Watl) Alpha1-AT Study Group. Eur Respir J 10: 2260–2263.
56. Silverman E. Miletich J. Pierce J. Sherman L. Endicott S. Broze G. Jr (1989) Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening. Am Rev Respir Dis 140: 961–966.
57. Silverman E. Pierce J. Province M. Rao D. Campbell E. (1989) Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med 111: 982–991.
58. Silverman E. Sandhaus R. (2009) Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med 360: 2749–2757.
59. Soriano J. Zielinski J. Price D. (2009) Screening for and early detection of chronic obstructive pulmonary disease. Lancet 374: 721–732.
60. Soy D. De La Roza C. Lara B. Esquinas C. Torres A. Miravitlles M. (2006) Alpha-1-antitrypsin deficiency: optimal therapeutic regimen based on population pharmacokinetics. Thorax 61: 1059–1064.
61. Stockley R. Miravitlles M. Vogelmeier C. (2013) Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach. Orphanet J Rare Dis 8: 149.
62. Stockley R. Parr D. Piitulainen E. Stolk J. Stoel B. Dirksen A. (2010) 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 11: 136.
63. Stoel B. Bode F. Rames A. Soliman S. Reiber J. Stolk J. (2008) Quality control in longitudinal studies with computed tomographic densitometry of the lungs. Proc Am Thorac Soc 5: 929–933.
64. Stoller J. Fallat R. Schluchter M. O—Brien R. Connor J. Gross N. (2003) Augmentation therapy with alpha1-antitrypsin: patterns of use and adverse events. Chest 123: 1425–1434.
65. Stoller J. Sandhaus R. Turino G. Dickson R. Rodgers K. Strange C. (2005) Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 128: 1989–1994.
66. Stoller J. Strange C. Schwarz L. Kallstrom T. Chatburn R. (2013) Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care 59: 667–672.
67. Sveger T. (1976) Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 294: 1316–1321.
68. Sveger T. (1988) The natural history of liver disease in alpha 1-antitrypsin deficient children. Acta Paediatr Scand 77: 847–851.
69. Sveger T. Eriksson S. (1995) The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology 22: 514–517.
70. Teckman J. (2013) Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy. COPD 10(Suppl. 1): 35–43.
71. The Alpha-1-Antitrypsin Deficiency Registry Study Group (1998) Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med 158: 49–59.
72. Tobin M. Cook P. Hutchison D. (1983) 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 77: 14–27.
73. Wencker M. Fuhrmann B. Banik N. Konietzko N. (2001) Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor. Chest 119: 737–744.
74. Wewers M. Casolaro M. Sellers S. Swayze S. McPhaul K. Wittes J. (1987) Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med 316: 1055–1062.