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Current Respiratory Medicine Reviews

Editor-in-Chief

ISSN (Print): 1573-398X
ISSN (Online): 1875-6387

Review Article

Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease: Between Overlaps, Phenotypes and Illnesses

Author(s): ">Alexandru Corlateanu*, ">Serghei Covantev, ">Irina Caraivanova, ">Vlada Bodrug, ">Victor Botnaru, Joseph Varon and Nikolaos Siafakas

Volume 15, Issue 2, 2019

Page: [147 - 155] Pages: 9

DOI: 10.2174/1573398X15666190617143122

Abstract

Alpha-1 antitrypsin deficiency (AATD) or alpha-1 antitrypsin proteinase inhibitor (α1-Pi) deficiency, is a genetic disorder leading to a higher risk of pulmonary, hepatic and other organrelated diseases. The spectrum of diseases associated with AATD is large and includes pulmonary conditions (COPD, asthma, asthma-COPD overlap syndrome, bronchiectasis, etc.) as well as extrapulmonary (liver diseases, systemic vasculitis, rheumatoid arthritis, panniculitis, multiple sclerosis, peripheral neuropathy). We present a review of AATD focusing on its connection to other conditions.

Keywords: Alpha-1 antitrypsin deficiency, COPD, phenotypes, illness, syndrome, bronchiectasis.

Graphical Abstract
[1]
Laurell CB, Eriksson S. The electrophoretic α;1-globulin pattern of serum in α;1-antitrypsin deficiency scandinavian. J Clin Lab Invest 1963; 15(2): 132-40.
[2]
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; 3(3): 668-82.
[3]
Stockley RA. Alpha-1 antitrypsin deficiency: Phenotypes and quality of life. Ann Am Thorac Soc 2016; 13(4): S332-5.
[4]
Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med 2012; 185(3): 246-59.
[5]
Spoonhower KA, Davis PB. Epidemiology of cystic fibrosis. Clin Chest Med 2016; 37(1): 1-8.
[6]
Luisetti M, Seersholm N. Alpha1-antitrypsin deficiency. 1: Epidemiology of alpha1-antitrypsin deficiency. Thorax 2004; 59(2): 164-9.
[7]
Stoller JK, Lacbawan FL, Aboussouan LS. Alpha-1 antitrypsin deficiency Gene Reviews 2006.
[8]
Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C. Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem. Chest 2005; 128(4): 1989-94.
[9]
DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: Genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004; 59(3): 259-64.
[10]
Crowther DCBD, Belorgey D, Miranda E, Kinghorn KJ, Sharp LK, Lomas DA. Practical genetics: Alpha-1-antitrypsin deficiency and the serpinopathies. Eur J Hum Genet 2004; 12(3): 167-72.
[11]
O’Reilly LP. α1-antitrypsin deficiency and the hepatocytes - an elegans solution to drug discovery. PMC 2014; 47: 109-12.
[12]
de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med 2014; 276(4): 311-35.
[13]
Demkow U, van Overveld FJ. Role of elastases in the pathogenesis of chronic obstructive pulmonary disease: Implications for treatment. Eur J Med Res 2010; 15(Suppl. 2): 27-35.
[14]
Ekeowa UI, Gooptu B, Belorgey D, et al. α1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies. Clin Sci (Lond) 2009; 116(12): 837-50.
[15]
Greene CM, Marciniak SJ, Teckman J, et al. α1-Antitrypsin deficiency. Nat Rev Dis Primers 2016; 2: 16051.
[16]
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.
[17]
Zhigaltsova-Kuchinskaya OA. Sivitskaya lN, Danilenko NG, Zhigaltsov AM, Nagornov IV, Metelsky SM. Alpha-1-antitrypsin deficiency: Genetic fundamentals, epidemiology, role in the development of bronchopulmonary pathology. Vestnik VGMU 2015; 14(6): 39-52.
[18]
Elzouki AN, Segelmark M, Wieslander J, Eriksson S. Strong link between the alpha 1-antitrypsin PiZ allele and Wegener’s granulomatosis. J Intern Med 1994; 236(5): 543-8.
[19]
Bals R KT. Alpha-1-Antitrypsin Deficiency Pathophysiology, Diagnosis and Treatment Stuttgart, Germany New York, USA 2009.
[20]
Molloy K. HCP, Morris VB, Carroll TP, O’Connor CA, Lasky-Su JA, Greene CM, O’Neill SJ, Silverman EK, McElvaney NG. Clarification of the risk of chronic obstructive pulmonary disease in a1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med 2014; 189(4): 419-27.
[21]
Hurst JR, Elborn JS, De Soyza A. COPD-bronchiectasis overlap syndrome. Eur Respir J 2015; 45(2): 310-3.
[22]
Corlateanu A, Covantev S, Mathioudakis AG, Botnaru V, Siafakas N. Ashtma-Chronic obstructive pulmonary disease overlap syndrome (ACOS): current evidence and future research directions. COPD Res Prac 2017; 3(1): 6.
[23]
Brode SK, Ling SC, Chapman KR. Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease. CMAJ 2012; 184(12): 1365-71.
[24]
Chorostowska-Wynimko J, Struniawski R, Sliwinski P, Wajda B, Czajkowska-Malinowska M. The national alpha-1 antitrypsin deficiency registry in Poland. COPD 2015; 12(Suppl. 1): 22-6.
[25]
Needham M, Stockley RA. Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. Thorax 2004; 59(5): 441-5.
[26]
Parr DG, Stoel BC, Stolk J, Stockley RA. Pattern of emphysema distribution in alpha1-antitrypsin deficiency influences lung function impairment. Am J Respir Crit Care Med 2004; 170(11): 1172-8.
[27]
Stavngaard T, Shaker SB, Dirksen A. Quantitative assessment of emphysema distribution in smokers and patients with alpha1-antitrypsin deficiency. Respir Med 2006; 100(1): 94-100.
[28]
Gurney JW, Jones KK, Robbins RA, et al. Regional distribution of emphysema: correlation of high-resolution CT with pulmonary function tests in unselected smokers. Radiology 1992; 183(2): 457-63.
[29]
Mayer AS, Stoller JK, Vedal S, et al. Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis 2006; 1(4): 485-92.
[30]
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(3): 244-8.
[31]
Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypysin deficiency. Am J Respir Crit Care Med 1997; 156(1): 68-74.
[32]
Demeo DL, Sandhaus RA, Barker AF, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax 2007; 62(9): 806-13.
[33]
Demeo DL, Campbell EJ, Barker AF, et al. IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency. Am J Respir Cell Mol Biol 2008; 38(1): 114-20.
[34]
Kim WJ, Wood AM, Barker AF, et al. Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency. Respir Res 2012; 13: 16.
[35]
Strange C. Airway disease in alpha-1 antitrypsin deficiency. COPD 2013; 10(Suppl. 1): 68-73.
[36]
Stolk J, Seersholm N, Kalsheker N. Alpha1-antitrypsin deficiency: Current perspective on research, diagnosis, and management. Int J Chron Obstruct Pulmon Dis 2006; 1(2): 151-60.
[37]
Crystal RG. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest 1990; 85(5): 1343-52.
[38]
O’Brien ME, Pennycooke K, Carroll TP, et al. The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. COPD 2015; 12(Suppl. 1): 2-9.
[39]
Fregonese L, Stolk J, Frants RR, Veldhuisen B. Alpha-1 antitrypsin Null mutations and severity of emphysema. Respir Med 2008; 102(6): 876-84.
[40]
DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: Genetic aspects of alpha (1)-antitrypsin deficiency: Phenotypes and genetic modifiers of emphysema risk. Thorax 2004; 59(3): 259-64.
[41]
Greulich T, Nell C, Hohmann D, et al. The prevalence of diagnosed α1-antitrypsin deficiency and its comorbidities: Results from a large population-based database. Eur Respir J 2017; 49(1)1600154
[42]
Eden E, Strange C, Holladay B, Xie L. Asthma and allergy in alpha-1 antitrypsin deficiency. Respir Med 2006; 100(8): 1384-91.
[43]
Eden E, Hammel J, Rouhani FN, et al. Asthma features in severe alpha1-antitrypsin deficiency: Experience of the National Heart, Lung, and Blood Institute Registry. Chest 2003; 123(3): 765-71.
[44]
Soler-Cataluña JJ, Cosío B, Izquierdo JL, et al. Consensus document on the overlap phenotype COPD-asthma in COPD. Arch Bronconeumol 2012; 48(9): 331-7.
[45]
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(12): 1215-21.
[46]
Araújo DSM. Association between alpha 1 antitrypsin and bronchiectasis. Eur Respir J 2015; 46: 1248.
[47]
Cuvelier A, Muir JF, Hellot MF, et al. Distribution of alpha (1)-antitrypsin alleles in patients with bronchiectasis. Chest 2000; 117(2): 415-9.
[48]
Mao B, Lu HW, Li MH, et al. The existence of bronchiectasis predicts worse prognosis in patients with COPD. Sci Rep 2015; 5: 10961.
[49]
Martínez-García MA, Soler-Cataluña JJ, Donat Sanz Y, et al. Factors associated with bronchiectasis in patients with COPD. Chest 2011; 140(5): 1130-7.
[50]
Sundaram SS, Sokol RJ, Capocelli KE, Pan Z, Sullivan JS, Robbins K, et al. Obstructive sleep apnea and hypoxemia are associated with advanced liver histology in pediatric non-alcoholic fatty liver disease. J Pediatr 2014; 164(4): 699-706.e1.
[51]
Nobili V, Cutrera R, Liccardo D, et al. Obstructive sleep apnea syndrome affects liver histology and inflammatory cell activation in pediatric nonalcoholic fatty liver disease, regardless of obesity/insulin resistance. Am J Respir Crit Care Med 2014; 189(1): 66-76.
[52]
Mieczkowski B, Ezzie ME. Update on obstructive sleep apnea and its relation to COPD. Int J Chron Obstruct Pulmon Dis 2014; 9: 349-62.
[53]
Evaluation of sleep disorders in patients with alpha-1 antitrypsin deficiency. A74 laboratory and management issues for sleep disorders. Am J Respir Crit Care Med 2011; 183: A2233.
[54]
Summ O, Gregor N, Marziniak M, Gralow I, Husstedt IW, Evers S. Cluster headache and Alpha 1-antitrypsin deficiency. Cephalalgia 2010; 30(1): 113-7.
[55]
Corlateanu A, Covantev S, Mathioudakis AG, Botnaru V, Siafakas N. Prevalence and burden of comorbidities in chronic obstructive pulmonary disease. Respir Investig 2016; 54(6): 387-96.
[56]
Hobbs BD, Foreman MG, Bowler R, et al. Pneumothorax risk factors in smokers with and without chronic obstructive pulmonary disease. Ann Am Thorac Soc 2014; 11(9): 1387-94.
[57]
Serapinas D, Obrikyte V, Vaicius D, Balciuviene R, Valavicius A, Sakalauskas R. Alpha-1 antitrypsin deficiency and spontaneous pneumothorax: possible causal relationship. Pneumologia 2014; 63(1): 32-5.
[58]
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(10): 1097-103.
[59]
Torres-Duran M, Ruano-Ravina A, Parente-Lamelas I, et al. Alpha-1 antitrypsin deficiency and lung cancer risk: A case-control study in never-smokers. J Thorac Oncol 2015; 10(9): 1279-84.
[60]
Sun Z, Yang P. Role of imbalance between neutrophil elastase and alpha 1-antitrypsin in cancer development and progression. Lancet Oncol 2004; 5(3): 182-90.
[61]
Topic A, Ljujic M, Nikolic A, et al. Alpha-1-antitrypsin phenotypes and neutrophil elastase gene promoter polymorphisms in lung cancer. Pathol Oncol Res 2011; 17(1): 75-80.
[62]
Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: a review. Am J Gastroenterol 2008; 103(8): 2136-41.
[63]
Eigenbrodt ML, McCashland TM, Dy RM, Clark J, Galati J. Heterozygous alpha 1-antitrypsin phenotypes in patients with end stage liver disease. Am J Gastroenterol 1997; 92(4): 602-7.
[64]
Teckman JH, Mangalat N. Alpha-1 antitrypsin and liver disease: Mechanisms of injury and novel interventions. Expert Rev Gastroenterol Hepatol 2015; 9(2): 261-8.
[65]
Giovannoni I, Callea F, Stefanelli M, Mariani R, Santorelli FM, Francalanci P. Alpha-1-antitrypsin deficiency: From genoma to liver disease. PiZ mouse as model for the development of liver pathology in human. Liver Int 2015; 35(1): 198-206.
[66]
Cacciottolo TM, Gelson WT, Maguire G, Davies SE, Griffiths WJ. Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis. Eur J Gastroenterol Hepatol 2014; 26(4): 412-7.
[67]
Dawwas MF, Davies SE, Griffiths WJ, Lomas DA, Alexander GJ. Prevalence and risk factors for liver involvement in individuals with PiZZ-related lung disease. Am J Respir Crit Care Med 2013; 187(5): 502-8.
[68]
Mapel DW, Marton JP. Prevalence of renal and hepatobiliary disease, laboratory abnormalities, and potentially toxic medication exposures among persons with COPD. Int J Chron Obstruct Pulmon Dis 2013; 8: 127-34.
[69]
Minakata Y, Ueda H, Akamatsu K, et al. High COPD prevalence in patients with liver disease. Intern Med 2010; 49(24): 2687-91.
[70]
Martusewicz-Boros MM, Boros PW, Wiatr E. Respiratory system involvement in chronic liver diseases. Pol Arch Med Wewn 2013; 123(11): 635-42.
[71]
Jung DH, Shim JY, Lee HR, Moon BS, Park BJ, Lee YJ. Relationship between non-alcoholic fatty liver disease and pulmonary function. Intern Med J 2012; 42(5): 541-6.
[72]
Huo YM, Hua R, Chen W, Sun YW. Clinical study on pulmonary diffusion function in patients with chronic liver disease. J Dig Dis 2010; 11(5): 291-8.
[73]
Hourani JM, Bellamy PE, Tashkin DP, Batra P, Simmons MS. Pulmonary dysfunction in advanced liver disease: Frequent occurrence of an abnormal diffusing capacity. Am J Med 1991; 90(6): 693-700.
[74]
Hird MF, Greenough A, Mieli-Vergani G, Mowat AP. Hyperinflation in children with liver disease due to alpha-1-antitrypsin deficiency. Pediatr Pulmonol 1991; 11(3): 212-6.
[75]
Oliveira da Silva AM, Maturi S, Boin IF. Comparison of surface electromyography in respiratory muscles of healthy and liver disease patients: preliminary studies. Transplant Proc 2011; 43(4): 1325-6.
[76]
Górska K, Korczyński P, Struniawski R, et al. Heterozygous α1-antitrypsin deficiency in liver transplant candidates. Pol Arch Med Wewn 2013; 123(1-2): 14-20.
[77]
Stone H, Pye A, Stockley RA. Disease associations in alpha-1-antitrypsin deficiency. Respir Med 2014; 108(2): 338-43.
[78]
Lonardo A, Medicina D, Leonelli M, Bagni A, Callea F. Intestinal Wegener’s granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida). Eur J Gastroenterol Hepatol 2002; 14(12): 1389-92.
[79]
Blanco I, Lipsker D, Lara B, Janciauskiene S. Neutrophilic panniculitis associated with alpha-1-antitrypsin deficiency: An update. Br J Dermatol 2016; 174(4): 753-62.
[80]
Choate R, Mannino DM, Holm KE, Sandhaus RA. Comparing Patients with ZZ Versus SZ Alpha-1 Antitrypsin Deficiency: Findings from AlphaNet’s disease management program. Chronic Obstr Pulm Dis (Miami) 2018; 6(1): 29-39.
[81]
Curjuric I, Imboden M, Bettschart R, et al. Alpha-1 antitrypsin deficiency: From the lung to the heart? Atherosclerosis 2018; 270: 166-72.
[82]
Dahl M, Tybjaerg-Hansen A, Sillesen H, Jensen G, Steffensen R, Nordestgaard BG. Blood pressure, risk of ischemic cerebrovascular and ischemic heart disease, and longevity in alpha (1)-antitrypsin deficiency: The Copenhagen City Heart Study. Circulation 2003; 107(5): 747-52.
[83]
Dal Negro RW, Bonadiman L, Turco P. Prevalence of different comorbidities in COPD patients by gender and GOLD stage. Multidiscip Respir Med 2015; 10(1): 24.
[84]
Corlateanu A, Covantev S, Scutaru E, Rusu D, Corlateanu O, Botnaru V. A multilateral approach to copd comorbidities. Eur Respir J 2018; 52(Suppl. 62). PA4034

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