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Review

Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives

, , ORCID Icon & ORCID Icon
Pages 1243-1255 | Published online: 16 Dec 2020

References

  • Strnad P, et al. Alpha1-antitrypsin deficiency. N Engl J Med. 2020;382:1443–1455. doi:10.1056/NEJMra1910234
  • Abboud RT, Tanya N, Jung B, et al. Alpha1-antitrypsin deficiency: a clinical-genetic overview. Appl Clin Genet. 2011;4:55–65. doi:10.2147/TACG.S10604
  • Haq I, Irving JA, Saleh AD, et al. Deficiency mutations of alpha-1 antitrypsin. effects on folding, function, and polymerization. Am J Respir Cell Mol Biol 2016;54:71–80. doi:10.1165/rcmb.2015-0154OC
  • Brantly ML, Wittes JT, Vogelmeier CF, et al. Use of a highly purified α1-antitrypsin standard to establish ranges for the common normal and deficient α1-antitrypsin phenotypes. Chest. 1991;100:703–708. 3 doi:10.1378/chest.100.3.703
  • de Serres FJ, Blanco I Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review Ther Adv Respir Dis. 2012;6(5):277–295. doi:10.1177/1753465812457113
  • Russo R, et al. Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil. J Bras Pneumol. 2016;42(5):311–316 doi:10.1590/S1806-37562015000000180
  • Molloy K, et al. Clarification of the risk of chronic obstructive pulmonary disease in alpha1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014;189:419–427. doi:10.1164/rccm.201311-1984OC
  • Franciosi AN, et al. Clarifying the risk of lung disease in sz alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2020;202:73–82. doi:10.1164/rccm.202002-0262OC
  • Franciosi AN, et al. SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ. Thorax. 2020. doi:10.1136/thoraxjnl-2020-215250
  • Mahadeva R, et al. Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest. 1999;103:999–1006. doi:10.1172/JCI4874
  • Fazleen A, Wilkinson T Early COPD: current evidence for diagnosis and management. Ther Adv Respir Dis. 2020;14:1753466620942128. doi:10.1177/1753466620942128
  • Harris R, Harman DJ, Card TR, et al. Prevalence of clinically significant liver disease within the general population, as defined by non-invasive markers of liver fibrosis: a systematic review. Lancet Gastroenterol Hepatol. 2017;2:288–297. doi:10.1016/S2468-1253(16)30205-9
  • Miravitlles M, et al. European respiratory society statement: diagnosis and treatment of pulmonary disease in alpha1-antitrypsin deficiency. Eur Respir J. 2017;50.
  • 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.
  • Global initiative for obstructive lung disease. Available from: www.goldcopd.com. Accessed November 30, 2020.
  • Blanco I, Bueno P, Diego I, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017;12:561–569. 10.2147/COPD.S125389
  • Casas F, et al. Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update. Arch Bronconeumol. 2015;51:185–192. 10.1016/j.arbres.2014.05.008
  • Greulich T, et al. European screening for alpha1 -antitrypsin deficiency in subjects with lung disease. Clin Respir J. 2017;11:90–97. 10.1111/crj.12310
  • Horvath I, et al. Diagnosis and management of alpha1-antitrypsin deficiency in Europe: an expert survey. ERJ Open Res. 2019;5.
  • Attaway A, Majumdar U, Sandhaus RA, et al. An analysis of the degree of concordance among international guidelines regarding alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis. 2019;14:2089–2101. 10.2147/COPD.S208591
  • Andermann A, et al. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86:317–319. 10.2471/BLT.07.050112
  • Brode SK, Ling SC, Chapman KR. Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease. CMAJ. 2012;184:1365–1371. doi:10.1503/cmaj.111749
  • Gupta N, Gaudreault N, Thériault S, et al. Granularity of, SERPINA1 alleles by DNA sequencing in CanCOLD. Eur Respir J. 2020. 56 2000958 10.1183/13993003.00958-2020
  • Tanash HA, Nystedt-Düzakin M, Montero LC, et al. The Swedish α 1 -antitrypsin screening study: health status and lung and liver function at age 34. Ann Am Thorac Soc. 2015;12:807–812. 10.1513/AnnalsATS.201410-452OC
  • Lambe T, Adab P, Jordan RE, et al. Model-based evaluation of the long-term cost-effectiveness of systematic case-finding for COPD in primary care. Thorax. 2019;74:730–739. 10.1136/thoraxjnl-2018-212148
  • Bradi AC, Audisho N, Casey DK, et al. Alpha-1 antitrypsin deficiency in Canada: regional disparities in diagnosis and management. COPD. 2015;12 Suppl 1:15–21. 10.3109/15412555.2015.1021908
  • Greulich T, Nell C, Herr C, et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003–2015. Orphanet J Rare Dis. 2016;11:75. 10.1186/s13023-016-0453-8
  • Garcia-Palenzuela R, et al. [Detection of alpha-1 antitrypsin deficiency: A study on patients diagnosed with chronic obstructive pulmonary disease in primary health care]. Semergen. 2017;43:289–294. Spanish.
  • Greulich T, et al. Real world evaluation of a novel lateral flow assay (AlphaKit (R) QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respir Res. 2017;Volume 12:151. 10.1186/s12931-018-0826-8
  • Tasch JJ, et al. A novel approach to screening for alpha-1 antitrypsin deficiency: inpatient testing at a teaching institution. Chronic Obstr Pulm Dis. 2018;5:106–110.
  • Torres-Duran M, Lopez-Campos JL, Barrecheguren M, et al. Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet J Rare Dis. 2018;13:114. 10.1186/s13023-018-0856-9
  • Sanders CL, Ponte A, Kueppers F, et al. The effects of inflammation on alpha 1 antitrypsin levels in a national screening cohort. COPD. 2018;15:10–16. 10.1080/15412555.2017.1401600
  • Scarlata S, et al. Electrophoretic alpha1-globulin for screening of alpha1-antitrypsin deficient variants. Clinical Chemistry Laboratory Med. 2020.
  • De Tommaso AM, et al. Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease. Arq Gastroenterol. 2001;38:63–68. 10.1590/S0004-28032001000100012
  • Sharp HL History of the first description of childhood liver disease in AATD. COPD. 2013;10 Suppl 1:13–16. 10.3109/15412555.2013.766165
  • de Miguel-diez J, Jiménez-García R, López de Andrés A, et al. Effectiveness of an intervention to improve management of COPD using the AUDIT methodology: results of the neumo-advance study. Clin Drug Investig. 2019;39:653–664. 10.1007/s40261-019-00787-4
  • Nolte JL, Ataya A, Merrill H, et al. Alpha1-antitrypsin deficiency—increased knowledge and diagnostic testing after viewing short instructional video. COPD. 2017;14:52–55. 10.1080/15412555.2016.1245280
  • Ruparel M, Quaife SL, Dickson JL, et al. Prevalence, symptom burden, and underdiagnosis of chronic obstructive pulmonary disease in a lung cancer screening cohort. Ann Am Thorac Soc. 2020;17:869–878. 10.1513/AnnalsATS.201911-857OC
  • Black WC, et al. Cost-effectiveness of CT screening in the national lung screening trial. N Engl J Med. 2014;371:1793–1802. 10.1056/NEJMoa1312547
  • Soriano JB, et al. Trends of testing for and diagnosis of alpha1-antitrypsin deficiency in the UK: more testing is needed. Eur Respir J. 2018;52.
  • Jordan RE, et al. Targeted case finding for chronic obstructive pulmonary disease versus routine practice in primary care (TargetCOPD): a cluster-randomised controlled trial. Lancet Respir Med. 2016;4:720–730. 10.1016/S2213-2600(16)30149-7
  • Lin HC, et al. Alpha1-antitrypsin deficiency: transition of care for the child with AAT deficiency into adulthood. Curr Pediatr Rev. 2019;15:53–61. 10.2174/1573396314666181113094517
  • Holme J, et al. Studies of gamma-glutamyl transferase in alpha-1 antitrypsin deficiency. COPD. 2010;7:126–132. 10.3109/15412551003631733
  • Reiter R, et al. Comparison of non-invasive assessment of liver fibrosis in patients with alpha1-antitrypsin deficiency using magnetic resonance elastography (MRE), acoustic radiation force impulse (ARFI) Quantification, and 2D-shear wave elastography (2D-SWE). PLoS One. 2018;13:e0196486. 10.1371/journal.pone.0196486
  • Clark VC, et al. Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. J Hepatol. 2018. 69 1357–1364 10.1016/j.jhep.2018.08.005
  • Kumpers J, et al. Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype). J Hepatol. 2019;71:1272–1274. 10.1016/j.jhep.2019.08.011
  • Hamesch K, et al. Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ Mutation. Gastroenterology. 2019;157:705–19 e18. 10.1053/j.gastro.2019.05.013
  • Viglio S, et al. MEKC of desmosine and isodesmosine in urine of chronic destructive lung disease patients. Eur Respir J. 2000;15:1039–1045. 10.1034/j.1399-3003.2000.01511.x
  • Fregonese L, et al. Long-term variability of desmosine/isodesmosine as biomarker in alpha-1-antritrypsin deficiency–related COPD. COPD. 2011;8:329–333 10.3109/15412555.2011.589871
  • Ma S, et al. The effect of alpha-1 proteinase inhibitor on biomarkers of elastin degradation in alpha-1 antitrypsin deficiency: an analysis of the RAPID/RAPID Extension trials. Chronic Obstr Pulm Dis. 2017;4(1):34–44.
  • Mahadeva R, et al. Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Am J Pathol. 2005;166:377–386. 10.1016/S0002-9440(10)62261-4
  • Campos MA, Diaz AA The role of computed tomography for the evaluation of lung disease in alpha-1 antitrypsin deficiency. Chest. 2018;153:1240–1248. 5 10.1016/j.chest.2017.11.017
  • Celli BR, et al. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med. 2004;350:1005–1012. 10.1056/NEJMoa021322
  • Thabut G, et al. Performance of the BODE index in patients with alpha1-antitrypsin deficiency-related COPD. Eur Respir J. 2014;44:78–86. 10.1183/09031936.00168113
  • Edgar RG, et al. Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review. Int J Chron Obstruct Pulmon Dis. 2017;12:1295–1308. 10.2147/COPD.S130440
  • Low EV, et al. ICS use may modify FEV1 decline in α1-antitrypsin deficiency patients with relatively high blood eosinophils. Respiration 2018; 95: 114–121 10.1159/000481867
  • Chapman KR, et al. Intravenous augmentation treatment and lung density in severe alpha1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386:360–368. 10.1016/S0140-6736(15)60860-1
  • Green CE, et al. Lung density associates with survival in alpha 1 antitrypsin deficient patients. Respir Med. 2016;112:81–87. 10.1016/j.rmed.2016.01.007
  • Chapman KR, et al. Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD. 2009;6:177–184. 10.1080/15412550902905961
  • Highly specialised technology evaluation human alpha1-proteinase inhibitor for treating emphysema [ID856]: evaluation Report. NICE, 2019.
  • Ficker JH, et al. Alpha-1 antitrypsin (A1-PI) treatment slows emphysema progression independent of baseline FEV1. Eur Respir J. 2017;50:OA3416.
  • McElvaney NG, et al. Long-term efficacy and safety of alpha1 proteinase inhibitor treatment for emphysema caused by severe alpha1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE). Lancet Respir Med. 2017;5:51–60. 10.1016/S2213-2600(16)30430-1
  • Dirksen A, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J. 2009;33:1345–1353. 10.1183/09031936.00159408
  • Dirksen A, et al. A randomized clinical trial of alpha (1)-antitrypsin augmentation therapy. Am J Respir Crit Care Med. 1999;160:1468–1472. 10.1164/ajrccm.160.5.9901055
  • Stockley RA, et al. Individualized lung function trends in alpha-1-antitrypsin deficiency: a need for patience in order to provide patient centered management? Int J Chron Obstruct Pulmon Dis. 2016;11:1745–1756. 10.2147/COPD.S111508
  • Pye A, Turner AM Experimental and investigational drugs for the treatment of alpha-1 antitrypsin deficiency. Expert Opin Investig Drugs. 2019;28:891–902. 10.1080/13543784.2019.1672656
  • Sorrells S, et al. SPARTA clinical trial design: exploring the efficacy and safety of two dose regimens of alpha1-proteinase inhibitor augmentation therapy in alpha1-antitrypsin deficiency. Respir Med. 2015;109:490–499. 10.1016/j.rmed.2015.01.022
  • Townsend S, et al. Presentation and prognosis of liver disease in alpha-1 antitrypsin deficiency. Expert Rev Gastroenterol Hepatol. 2018;12:745–747. 10.1080/17474124.2018.1477589
  • Sasaki K, et al. Should we be utilizing more liver grafts from pediatric donation after circulatory death donors? A national analysis of the SRTR from 2002–2017. Transplantation. 2020. Publish Ahead of Print 10.1097/TP.0000000000003458
  • Burrows JA, et al. Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. Proc Natl Acad Sci U S A. 2000;97:1796–1801. 10.1073/pnas.97.4.1796
  • Teckman JH Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study. J Pediatr Gastroenterol Nutr. 2004;39:34–37.
  • Gonzalez-Peralta RP, et al. 4-Phenyl butyrate mediated secretion rescue in patients with alpha 1-antitrypsin (aat) deficiency: A pilot study. Hepatology. 2006;44:211A.
  • Chang Y-P, Mahadeva R, Chang W-SW, et al. Identification of a 4-mer peptide inhibitor that effectively blocks the polymerization of pathogenic Z α 1-Antitrypsin. Am J Respir Cell Mol Biol. 2006;35:540–548. 5 10.1165/rcmb.2005-0207OC
  • Ordonez A, et al. A single-chain variable fragment intrabody prevents intracellular polymerization of Z alpha1-antitrypsin while allowing its antiproteinase activity. FASEB J. 2015;29:2667–2678. 10.1096/fj.14-267351