Alpha-1 Antitrypsin Deficiency-Associated Clinical Manifestations and Healthcare Resource Use in the United States

References

• Kohnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. Am J Med. 2008;121(1):3–9. DOI:10.1016/j.amjmed.2007.07.025
   PubMed Web of Science ®Google Scholar
• de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122(5):1818–1829. DOI:10.1378/chest.122.5.1818
   PubMed Web of Science ®Google Scholar
• 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(4):961–966. DOI:10.1164/ajrccm/140.4.961
   PubMed Web of Science ®Google Scholar
• O'Brien ML, Buist NR, Murphey WH. Neonatal screening for alpha1-antitrypsin deficiency. J Pediatr. 1978;92(6):1006–1010. DOI:10.1016/S0022-3476(78)80388-6
   PubMed Web of Science ®Google Scholar
• Mackun P, Wilson S. Population distribution and change: 2000 to 2010. U.S Census Bureau; 2011.
   Google Scholar
• Campos M, Shmuels D, Walsh J. Detection of alpha-1 antitrypsin deficiency in the US. Am J Med. 2012;125(7):623–624. DOI:10.1016/j.amjmed.2011.12.014
   PubMed Web of Science ®Google Scholar
• Brantly M. Efficient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin deficiency: the promise of early diagnosis and intervention. Clin Chem. 2006;52(12):2180–2181. DOI:10.1373/clinchem.2006.078907
   PubMed Web of Science ®Google Scholar
• Stoller JK, Tomashefski J, Jr, Crystal RG, et al. Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest. 2005;127(4):1196–1204. DOI:10.1378/chest.127.4.1196
   PubMed Web of Science ®Google Scholar
• Kelly E, Greene CM, Carroll TP, et al. Alpha-1 antitrypsin deficiency. Respir Med. 2010;104(6):763–772. DOI:10.1016/j.rmed.2010.01.016
   PubMed Web of Science ®Google Scholar
• Stoller JK, Aboussouan LS. Alpha1-antitrypsin deficiency. Lancet. 2005;365(9478):2225–2236. DOI:10.1016/S0140-6736(05)66781-5
   PubMed Web of Science ®Google Scholar
• Tomashefski JF, Jr, Crystal RG, Wiedemann HP, et al. The bronchopulmonary pathology of alpha-1 antitrypsin (AAT) deficiency: findings of the Death Review Committee of the National Registry for individuals with severe deficiency of alpha-1 antitrypsin. Hum Pathol. 2004;35(12):1452–1461. DOI:10.1016/j.humpath.2004.08.013
   PubMed Web of Science ®Google Scholar
• Needham M, Stockley RA. Exacerbations in α1-antitrypsin deficiency. Eur Respir J. 2005;25(6):992–1000. DOI:10.1183/09031936.05.00074704
   PubMed Web of Science ®Google Scholar
• Campos MA, Alazemi S, Zhang G, et al. Exacerbations in subjects with alpha-1 antitrypsin deficiency receiving augmentation therapy. Respir Med. 2009;103(10):1532–1539. DOI:10.1016/j.rmed.2009.04.008
   PubMed Web of Science ®Google Scholar
• Parr DG, Guest PG, Reynolds JH, et al. Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2007;176(12):1215–1221. DOI:10.1164/rccm.200703-489OC
   PubMed Web of Science ®Google Scholar
• Greulich T, Nell C, Hohmann D, et al. The prevalence of diagnosed alpha1-antitrypsin deficiency and its comorbidities: results from a large population-based database. Eur Respir J. 2017;49(1):1600154. DOI:10.1183/13993003.00154-2016
   PubMed Web of Science ®Google Scholar
• Sieluk J, Levy J, Sandhaus RA, et al. Costs of medical care among augmentation therapy users and non-users with alpha-1 antitrypsin deficiency in the United States. Chronic Obstr Pulm Dis. 2018;6(1):6–16. DOI:10.15326/jcopdf.6.1.2017.0187
   PubMed Web of Science ®Google Scholar
• Zacherle E, Noone JM, Runken MC, et al. Health care cost and utilization associated with alpha-1 antitrypsin deficiency among a cohort of Medicare beneficiaries with COPD. Value Health. 2015;18(7):A335–A766.
   Web of Science ®Google Scholar
• Chapman KR, Burdon JG, Piitulainen E, et al. Intravenous augmentation treatment and lung density in severe alpha1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386(9991):360–368. DOI:10.1016/S0140-6736(15)60860-1
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668–682. DOI:10.15326/jcopdf.3.3.2015.0182
   PubMed Web of Science ®Google Scholar
• 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(6):461–467. DOI:10.3949/ccjm.61.6.461
   PubMed Web of Science ®Google Scholar
• Stoller JK, Sandhaus RA, Turino G, et al. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest. 2005;128(4):1989–1994. DOI:10.1378/chest.128.4.1989
   PubMed Web of Science ®Google Scholar
• United States Bureau of Labor Statistics. 2017. Consumer Price Index Detailed Report. Washington, DC: United States Bureau of Labor Statistics; 2017 [cited 2019 July 11]. Available from: https://www.bls.gov/cpi/tables/detailed-reports/home.htm.
   Google Scholar
• Barrecheguren M, Monteagudo M, Simonet P, et al. Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. Int J Chron Obstruct Pulmon Dis. 2016;11:999–1004.
   PubMed Web of Science ®Google Scholar
• Lara B, Blanco I, Martinez MT, et al. Spanish registry of patients with alpha-1 antitrypsin deficiency: database evaluation and population analysis. Arch Bronconeumol. 2017;53(1):13–18. DOI:10.1016/j.arbres.2016.05.003
   PubMed Web of Science ®Google Scholar
• McElcaney NG, Stoller JK, Buist AS, et al. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Chest. 1997;111(2):394–403. DOI:10.1378/chest.111.2.394
   PubMed Web of Science ®Google Scholar
• Mullins CD, Huang X, Merchant S, Alpha One Foundation Research Network Registry Investigators, et al. The direct medical costs of alpha(1)-antitrypsin deficiency. Chest. 2001;119(3):745–752. DOI:10.1378/chest.119.3.745
   PubMed Web of Science ®Google Scholar
• Karl FM, Holle R, Bals R, COSYCONET Study Group, et al. Costs and health-related quality of life in alpha-1-antitrypsin deficient COPD patients. Respir Res. 2017;18(1):60. DOI:10.1186/s12931-017-0543-8
   PubMed Web of Science ®Google Scholar
• Alkins SA, O’Malley P. Should health-care systems pay for replacement therapy in patients with alpha(1)-antitrypsin deficiency? A critical review and cost-effectiveness analysis. Chest. 2000;117(3):875–880. DOI:10.1378/chest.117.3.875
   PubMed Web of Science ®Google Scholar
• Sclar DA, Evans MA, Robison LM, et al. Alpha1-proteinase inhibitor (human) in the treatment of hereditary emphysema secondary to alpha1-antitrypsin deficiency: number and costs of years of life gained. Clin Drug Investig. 2012;32(5):353–360. DOI:10.2165/11631920-000000000-00000
   PubMed Web of Science ®Google Scholar
• Campos MA, Runken MC, Davis AM, et al. Impact of a health management program on healthcare outcomes among patients on augmentation therapy for alpha 1-antitrypsin deficiency: an insurance claims analysis. Adv Ther. 2018;35(4):467–481. DOI:10.1007/s12325-018-0690-4
   PubMed Web of Science ®Google Scholar