Case Study 22 Emphysema Wikipedia

  • Caverley P, Augusti A, Anzueto, et al, eds. Global Initiative for Chronic Obstructive Pulmonary Disease. Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary Disease. Medical Communications Resources; 2008.

  • Cottin V, Nunes H, Brillet PY, Delaval P, Devouassoux G, Tillie-Leblond I, et al. Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur Respir J. 2005 Oct. 26(4):586-93. [Medline].

  • Goss AM, Morrisey EE. Wnt signaling and specification of the respiratory endoderm. Cell Cycle. 2010 Jan 1. 9(1):10-1. [Medline].

  • Ding B, Enstone A. Asthma and chronic obstructive pulmonary disease overlap syndrome (ACOS): structured literature review and physician insights. Expert Rev Respir Med. 2016. 10 (3):363-71. [Medline].

  • Adapted from the ACCP Pulmonary Medicine Board Review. 25th ed. Northbrook, IL: American College of Chest Physicians; 2009.

  • Rega PP. Phosgene Toxicity. Medscape Drugs &Diseases. Available at January 30, 2015; Accessed: August 31, 2016.

  • Liu Y, Yan S, Poh K, Liu S, Iyioriobhe E, Sterling DA. Impact of air quality guidelines on COPD sufferers. Int J Chron Obstruct Pulmon Dis. 2016. 11:839-72. [Medline].

  • Anthonisen NR, Connett JE, Murray RP. Smoking and lung function of Lung Health Study participants after 11 years. Am J Respir Crit Care Med. 2002 Sep 1. 166(5):675-9. [Medline].

  • 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 Oct 1. 168(7):818-900. [Medline].

  • Tetley TD. Macrophages and the pathogenesis of COPD. Chest. 2002 May. 121(5 Suppl):156S-159S. [Medline].

  • Saetta M, Di Stefano A, Turato G, Facchini FM, Corbino L, Mapp CE, et al. CD8+ T-lymphocytes in peripheral airways of smokers with chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 1998 Mar. 157(3 Pt 1):822-6. [Medline].

  • Luisetti M, Ma S, Iadarola P, Stone PJ, Viglio S, Casado B, et al. Desmosine as a biomarker of elastin degradation in COPD: current status and future directions. Eur Respir J. 2008 Nov. 32(5):1146-57. [Medline].

  • Hogg JC. Pathophysiology of airflow limitation in chronic obstructive pulmonary disease. Lancet. 2004 Aug 21-27. 364(9435):709-21. [Medline].

  • Takahashi M, Fukuoka J, Nitta N, Takazakura R, Nagatani Y, Murakami Y. Imaging of pulmonary emphysema: a pictorial review. Int J Chron Obstruct Pulmon Dis. 2008. 3(2):193-204. [Medline].

  • ATS Committee on Diagnostic Standards for Nontuberculous Respiratory Diseases, American Thoracic Society. Definitions and classification of chronic bronchitis, asthma, and pulmonary emphysema. Am Rev Respir Dis. 1962. 85:762–9.

  • Finkelstein R, Ma HD, Ghezzo H, Whittaker K, Fraser RS, Cosio MG. Morphometry of small airways in smokers and its relationship to emphysema type and hyperresponsiveness. Am J Respir Crit Care Med. 1995 Jul. 152(1):267-76. [Medline].

  • Adams PF, Barnes PM, Vickerie JL. Summary health statistics for the U.S. population: National Health Interview Survey, 2007. Vital Health Stat 10. 2008 Nov. 1-104. [Medline].

  • Buist AS, McBurnie MA, Vollmer WM, Gillespie S, Burney P, Mannino DM, et al. International variation in the prevalence of COPD (the BOLD Study): a population-based prevalence study. Lancet. 2007 Sep 1. 370(9589):741-50. [Medline].

  • Menezes AM, Perez-Padilla R, Jardim JR, Muino A, Lopez MV, Valdivia G, et al. Chronic obstructive pulmonary disease in five Latin American cities (the PLATINO study): a prevalence study. Lancet. 2005 Nov 26. 366(9500):1875-81. [Medline].

  • Silverman EK, Weiss ST, Drazen JM, Chapman HA, Carey V, Campbell EJ, et al. Gender-related differences in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2000 Dec. 162(6):2152-8. [Medline].

  • Lokke A, Lange P, Scharling H, Fabricius P, Vestbo J. Developing COPD: a 25 year follow up study of the general population. Thorax. 2006 Nov. 61(11):935-9. [Medline].

  • Haruna A, Muro S, Nakano Y, Ohara T, Hoshino Y, Ogawa E, et al. CT scan findings of emphysema predict mortality in COPD. Chest. 2010 Sep. 138(3):635-40. [Medline].

  • Deaths from chronic obstructive pulmonary disease--United States, 2000-2005. MMWR Morb Mortal Wkly Rep. 2008 Nov 14. 57(45):1229-32. [Medline].

  • Creutzberg EC, Wouters EF, Mostert R, Pluymers RJ, Schols AM. A role for anabolic steroids in the rehabilitation of patients with COPD? A double-blind, placebo-controlled, randomized trial. Chest. 2003 Nov. 124(5):1733-42. [Medline].

  • Crothers K, Butt AA, Gibert CL, Rodriguez-Barradas MC, Crystal S, Justice AC. Increased COPD among HIV-positive compared to HIV-negative veterans. Chest. 2006 Nov. 130(5):1326-33. [Medline].

  • [Guideline] US Preventive Services Task Force. Counseling and interventions to prevent tobacco use and tobacco-caused disease in adults and pregnant women: U.S. Preventive Services Task Force reaffirmation recommendation statement. Ann Intern Med. 2009 Apr 21. 150(8):551-5. [Medline].

  • COMBIVENT Inhalation Aerosol Study Group. In chronic obstructive pulmonary disease, a combination of ipratropium and albuterol is more effective than either agent alone. An 85-day multicenter trial. COMBIVENT Inhalation Aerosol Study Group. Chest. 1994 May. 105(5):1411-9. [Medline].

  • Chapman KR, Rennard SI, Dogra A, Owen R, Lassen C, Kramer B. Long-term safety and efficacy of indacaterol, a long-acting beta2-agonist, in subjects with COPD: a randomized, placebo-controlled study. Chest. 2011 Jul. 140(1):68-75. [Medline].

  • Calverley PM, Anderson JA, Celli B, Ferguson GT, Jenkins C, Jones PW, et al. Salmeterol and fluticasone propionate and survival in chronic obstructive pulmonary disease. N Engl J Med. 2007 Feb 22. 356(8):775-89. [Medline].

  • O'Donnell DE, Fluge T, Gerken F, Hamilton A, Webb K, Aguilaniu B, et al. Effects of tiotropium on lung hyperinflation, dyspnoea and exercise tolerance in COPD. Eur Respir J. 2004 Jun. 23(6):832-40. [Medline].

  • Tashkin DP, Celli B, Senn S, Burkhart D, Kesten S, Menjoge S, et al. A 4-year trial of tiotropium in chronic obstructive pulmonary disease. N Engl J Med. 2008 Oct 9. 359(15):1543-54. [Medline].

  • Brusasco V, Hodder R, Miravitlles M, Korducki L, Towse L, Kesten S. Health outcomes following treatment for six months with once daily tiotropium compared with twice daily salmeterol in patients with COPD. Thorax. 2003 May. 58(5):399-404. [Medline]. [Full Text].

  • Donohue JF, van Noord JA, Bateman ED, Langley SJ, Lee A, Witek TJ Jr, et al. A 6-month, placebo-controlled study comparing lung function and health status changes in COPD patients treated with tiotropium or salmeterol. Chest. 2002 Jul. 122(1):47-55. [Medline].

  • Kerwin EM, D'Urzo AD, Gelb AF, Lakkis H, Garcia Gil E, Caracta CF, et al. Efficacy and safety of a 12-week treatment with twice-daily aclidinium bromide in COPD patients (ACCORD COPD I). COPD. 2012 Apr. 9 (2):90-101. [Medline].

  • Wedzicha JA, Banerji D, Chapman KR, Vestbo J, Roche N, Ayers RT, et al. Indacaterol-Glycopyrronium versus Salmeterol-Fluticasone for COPD. N Engl J Med. 2016 Jun 9. 374 (23):2222-34. [Medline].

  • Calverley PM, Rabe KF, Goehring UM, Kristiansen S, Fabbri LM, Martinez FJ. Roflumilast in symptomatic chronic obstructive pulmonary disease: two randomised clinical trials. Lancet. 2009 Aug 29. 374(9691):685-94. [Medline].

  • Wood-Baker RR, Gibson PG, Hannay M, Walters EH, Walters JA. Systemic corticosteroids for acute exacerbations of chronic obstructive pulmonary disease. Cochrane Database Syst Rev. 2005 Jan 25. CD001288. [Medline].

  • Spencer S, Calverley PM, Burge PS, Jones PW. Impact of preventing exacerbations on deterioration of health status in COPD. Eur Respir J. 2004 May. 23(5):698-702. [Medline].

  • Walters JA, Walters EH, Wood-Baker R. Oral corticosteroids for stable chronic obstructive pulmonary disease. Cochrane Database Syst Rev. 2005 Jul 20. CD005374. [Medline].

  • Sin DD, Tashkin D, Zhang X, Radner F, Sjobring U, Thorén A, et al. Budesonide and the risk of pneumonia: a meta-analysis of individual patient data. Lancet. 2009 Aug 29. 374(9691):712-9. [Medline].

  • Vestbo J, Anderson JA, Brook RD, Calverley PM, Celli BR, Crim C, et al. Fluticasone furoate and vilanterol and survival in chronic obstructive pulmonary disease with heightened cardiovascular risk (SUMMIT): a double-blind randomised controlled trial. Lancet. 2016 Apr 30. 387 (10030):1817-26. [Medline].

  • Albert RK, Connett J, Bailey WC, Casaburi R, Cooper JA Jr, Criner GJ, et al. Azithromycin for prevention of exacerbations of COPD. N Engl J Med. 2011 Aug 25. 365(8):689-98. [Medline]. [Full Text].

  • Petty TL. The National Mucolytic Study. Results of a randomized, double-blind, placebo-controlled study of iodinated glycerol in chronic obstructive bronchitis. Chest. 1990 Jan. 97(1):75-83. [Medline].

  • Zheng JP, Wen FQ, Bai CX, Wan HY, Kang J, Chen P, et al. Twice daily N-acetylcysteine 600 mg for exacerbations of chronic obstructive pulmonary disease (PANTHEON): a randomised, double-blind placebo-controlled trial. Lancet Respir Med. 2014 Mar. 2(3):187-94. [Medline].

  • Sasaki T, Nakayama K, Yasuda H, Yoshida M, Asamura T, Ohrui T, et al. A randomized, single-blind study of lansoprazole for the prevention of exacerbations of chronic obstructive pulmonary disease in older patients. J Am Geriatr Soc. 2009 Aug. 57(8):1453-7. [Medline].

  • Nocturnal Oxygen Therapy Trial Group. Continuous or nocturnal oxygen therapy in hypoxemic chronic obstructive lung disease: a clinical trial. Nocturnal Oxygen Therapy Trial Group. Ann Intern Med. 1980 Sep. 93(3):391-8. [Medline].

  • Moberley S, Holden J, Tatham DP, Andrews RM. Vaccines for preventing pneumococcal infection in adults. Cochrane Database Syst Rev. 2013 Jan 31. 1:CD000422. [Medline].

  • Kyaw MH, Clarke S, Edwards GF, Jones IG, Campbell H. Serotypes/groups distribution and antimicrobial resistance of invasive pneumococcal isolates: implications for vaccine strategies. Epidemiol Infect. 2000 Dec. 125(3):561-72. [Medline].

  • Centers for Disease Control and Prevention. Updated recommendations for prevention of invasive pneumococcal disease among adults using the 23-valent pneumococcal polysaccharide vaccine (PPSV23). MMWR Morb Mortal Wkly Rep. 2010 Sep 3. 59(34):1102-6. [Medline].

  • Hubbard RC, Crystal RG. Augmentation therapy of alpha 1-antitrypsin deficiency. Eur Respir J Suppl. 1990 Mar. 9:44s-52s. [Medline].

  • Hurst JR, Donaldson GC, Quint JK, Goldring JJ, Baghai-Ravary R, Wedzicha JA. Temporal clustering of exacerbations in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2009 Mar 1. 179(5):369-74. [Medline].

  • O'Donnell DE, Parker CM. COPD exacerbations . 3: Pathophysiology. Thorax. 2006 Apr. 61(4):354-61. [Medline]. [Full Text].

  • Lightowler JV, Wedzicha JA, Elliott MW, Ram FS. Non-invasive positive pressure ventilation to treat respiratory failure resulting from exacerbations of chronic obstructive pulmonary disease: Cochrane systematic review and meta-analysis. BMJ. 2003 Jan 25. 326(7382):185. [Medline]. [Full Text].

  • Naunheim KS, Wood DE, Mohsenifar Z, Sternberg AL, Criner GJ, DeCamp MM, et al. Long-term follow-up of patients receiving lung-volume-reduction surgery versus medical therapy for severe emphysema by the National Emphysema Treatment Trial Research Group. Ann Thorac Surg. 2006 Aug. 82(2):431-43. [Medline].

  • Sciurba FC, Ernst A, Herth FJ, Strange C, Criner GJ, Marquette CH, et al. A randomized study of endobronchial valves for advanced emphysema. N Engl J Med. 2010 Sep 23. 363(13):1233-44. [Medline].

  • Celli BR, Cote CG, Marin JM, Casanova C, Montes de Oca M, Mendez RA, et al. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med. 2004 Mar 4. 350(10):1005-12. [Medline].

  • Ries AL, Bauldoff GS, Carlin BW, Casaburi R, Emery CF, Mahler DA, et al. Pulmonary Rehabilitation: Joint ACCP/AACVPR Evidence-Based Clinical Practice Guidelines. Chest. 2007 May. 131(5 Suppl):4S-42S. [Medline].

  • Alpha-1 antitrypsin deficiency
    Synonymsα1-antitrypsin deficiency
    Structure of Alpha-1 antitrypsin
    SpecialtyPulmonology, medical genetics
    SymptomsShortness of breath, wheezing, yellowish skin[1]
    ComplicationsCOPD, cirrhosis, neonatal jaundice, panniculitis[1]
    Usual onset20 to 50 years old[1]
    CausesMutation in the SERPINA1 gene[1]
    Diagnostic methodBased on symptoms, blood tests, genetic tests[2]
    Similar conditionsAsthma[1]
    TreatmentMedications, lung transplant, liver transplant[2]
    MedicationBronchodilators, inhaled steroids, antibiotics, intravenous infusions of A1AT protein[2]
    PrognosisLife expectancy ~50 years (smokers), nearly normal (non smokers)[3]
    Frequency1 in 2,500 (Europeans)[1]

    [edit on Wikidata]

    Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease.[1] Onset of lung problems is typically between 20 and 50 years old.[1] This may result in shortness of breath, wheezing, or an increased risk of lung infections.[1][2] Complications may include COPD, cirrhosis, neonatal jaundice, or panniculitis.[1]

    A1AD is due to a mutation in the SERPINA1 gene that results in not enough alpha-1 antitrypsin (A1AT).[1] Risk factors for lung disease include cigarette smoking and environmental dust.[1] The underlying mechanism involves unblocked neutrophil elastase and build up of abnormal A1AT in the liver.[1] It is autosomal co-dominant, meaning that one defective allele tends to result in milder disease than two defective alleles.[1] The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests.[2]

    Treatment of lung disease may include bronchodilators, inhaled steroids, and when infections occur antibiotics.[2]Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended.[2] In those with severe liver disease liver transplantation may be an option.[2][4] Avoiding smoking and vaccination for influenza, pneumococcus, and hepatitis is also recommended.[2] Life expectancy among those who smoke is 50 years old while among those who do not smoke it is almost normal.[3]

    The condition affects about 1 in 2,500 people of Europeans descent.[1] Severe disease occurs in about 1 in 5,000.[5] In Asians it is uncommon.[1] About 3% of people with COPD are believed to have the condition.[5] Alpha-1 antitrypsin deficiency was first described in the 1960s.[6]

    Signs and symptoms[edit]

    Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi, and rales. The patient's symptoms may resemble recurrent respiratory infections or asthma that does not respond to treatment. Individuals with A1AD may develop emphysema during their thirties or forties even without a history of significant smoking, though smoking greatly increases the risk for emphysema.[7] A1AD causes impaired liver function in some patients and may lead to cirrhosis and liver failure (15%). In newborns, alpha-1 antitrypsin deficiency has indicators that include early onset jaundice followed by prolonged jaundice. It is a leading indication for liver transplantation in newborns.

    Associated conditions[edit]

    α1-antitrypsin deficiency has been associated with a number of diseases:


    Serpin peptidase inhibitor, clade A, member 1 (SERPINA1) is the gene that encodes the protein alpha-1 antitrypsin. SERPINA1 has been localized to chromosome 14q32. Over 75 mutations of the SERPINA1 gene have been identified, many with clinically significant effects.[9] The most common cause of severe deficiency is a single base-pair substitution leading to a glutamate to lysine mutation at position 342 (dbSNP: rs28929474), while PiS is caused by a glutamate to valine mutation at position 264 (dbSNP: rs17580). Other rarer forms have been described (see OMIM).


    See also: Alpha-1 antitrypsin

    Alpha-1 antitrypsin (A1AT) is produced in the liver, and one of its functions is to protect the lungs from neutrophil elastase, an enzyme that can disrupt connective tissue.[7] Normal blood levels of alpha-1 antitrypsin may vary with analytical method but are typically around 1.0-2.7 g/l.[10] In individuals with PiSS, PiMZ and PiSZ genotypes, blood levels of A1AT are reduced to between 40 and 60% of normal levels. This is usually sufficient to protect the lungs from the effects of elastase in people who do not smoke. However, in individuals with the PiZZ genotype, A1AT levels are less than 15% of normal, and patients are likely to develop panacinar emphysema at a young age; 50% of these patients will develop liver cirrhosis, because the A1AT is not secreted properly and therefore accumulates in the liver[citation needed]. A liver biopsy in such cases will reveal PAS-positive, diastase-resistant granules. Unlike glycogen and other mucins which are diastase sensitive (i.e., diastase treatment disables PAS staining), A1AT deficient hepatocytes will stain with PAS even after diastase treatment - a state thus referred to as diastase resistant.

    Cigarette smoke is especially harmful to individuals with A1AD.[7] In addition to increasing the inflammatory reaction in the airways, cigarette smoke directly inactivates alpha-1 antitrypsin by oxidizing essential methionine residues to sulfoxide forms, decreasing the enzyme activity by a factor of 2000.


    A1AT deficiency remains undiagnosed in many patients. Patients are usually labeled as having COPD without an underlying cause. It is estimated that about 1% of all COPD patients actually have an A1AT deficiency. Thus, testing should be performed for all patients with COPD, asthma with irreversible airflow obstruction, unexplained liver disease, or necrotizing panniculitis.[citation needed] The initial test performed is serum A1AT level. A low level of A1AT confirms the diagnosis and further assessment with A1AT protein phenotyping and A1AT genotyping should be carried out subsequently.[11] The Alpha-1 Foundation offers free, confidential testing. [1]

    As protein electrophoresis does not completely distinguish between A1AT and other minor proteins at the alpha-1 position (agarose gel), antitrypsin can be more directly and specifically measured using a nephelometric or immunoturbidimetric method. Thus, protein electrophoresis is useful for screening and identifying individuals likely to have a deficiency. A1AT is further analyzed by isoelectric focusing (IEF) in the pH range 4.5-5.5, where the protein migrates in a gel according to its isoelectric point or charge in a pH gradient. Normal A1AT is termed M, as it migrates toward the center of such an IEF gel. Other variants are less functional and are termed A-L and N-Z, dependent on whether they run proximal or distal to the M band. The presence of deviant bands on IEF can signify the presence of alpha-1 antitrypsin deficiency. Since the number of identified mutations has exceeded the number of letters in the alphabet, subscripts have been added to most recent discoveries in this area, as in the Pittsburgh mutation described above. As every person has two copies of the A1AT gene, a heterozygote with two different copies of the gene may have two different bands showing on electrofocusing, although a heterozygote with one null mutant that abolishes expression of the gene will only show one band. In blood test results, the IEF results are notated as, e.g., PiMM, where Pi stands for protease inhibitor and "MM" is the banding pattern of that person.[citation needed]

    Other detection methods include use of enzyme-linked-immuno-sorbent-assays in vitro and radial immunodiffusion. Alpha 1-antitrypsin levels in the blood depend on the genotype. Some mutant forms fail to fold properly and are, thus, targeted for destruction in the proteasome, whereas others have a tendency to polymerize, thereafter being retained in the endoplasmic reticulum. The serum levels of some of the common genotypes are:[citation needed]

    • PiMM: 100% (normal)
    • PiMS: 80% of normal serum level of A1AT
    • PiSS: 60% of normal serum level of A1AT
    • PiMZ: 60% of normal serum level of A1AT
    • PiSZ: 40% of normal serum level of A1AT
    • PiZZ: 10-15% (severe alpha-1 antitrypsin deficiency)


    Treatment of lung disease may include bronchodilators, inhaled steroids, and when infections occur antibiotics.[2]Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended.[2] In those with severe liver disease liver transplantation may be an option.[2] Avoiding smoking and vaccination for influenza, pneumococcus, and hepatitis is also recommended.[2]

    A1AT protein[edit]

    Main article: Alpha-1_antitrypsin § Therapeutic_use

    People with lung disease due to A1AD may receive intravenous infusions of alpha-1 antitrypsin, derived from donated human plasma. This augmentation therapy is thought to arrest the course of the disease and halt any further damage to the lungs. Long-term studies of the effectiveness of A1AT replacement therapy are not available.[12] It is currently recommended that patients begin augmentation therapy only after the onset of emphysema symptoms.[11]

    As of 2015 there are four IV augmentation therapy manufacturers in the United States, Canada, and several European countries. Intravenous (IV) therapies are the standard mode of augmentation therapy delivery. Researchers are exploring inhaled therapies. IV augmentation therapies are manufactured by the following companies and have been shown to be clinically identical to one another in terms of dosage and efficacy.

    Augmentation therapy is not appropriate for people with liver disease; treatment of A1AD-related liver damage focuses on alleviating the symptoms of the disease. In severe cases, liver transplantation may be necessary.[citation needed]


    People of Northern European and Iberian ancestry are at the highest risk for A1AD. Four percent carry the PiZ allele; between 1 in 625 and 1 in 2000 are homozygous.

    Another study detected a frequency of 1 in 1550 individuals and a gene frequency of 0.026. The highest prevalence of the PiZZ variant was recorded in the northern and western European countries with mean gene frequency of 0.0140.[13]


    A1AD was discovered in 1963 by Carl-Bertil Laurell (1919–2001), at the University of Lund in Sweden.[14] Laurell, along with a medical resident, Sten Eriksson, made the discovery after noting the absence of the α1 band on protein electrophoresis in five of 1500 samples; three of the five patient samples were found to have developed emphysema at a young age.

    The link with liver disease was made six years later, when Harvey Sharp et al. described A1AD in the context of liver disease.[15]


    Recombinant and inhaled forms of A1AT are being studied. Other experimental therapies are aimed at the prevention of polymer formation in the liver.[16]


    External links[edit]

    Conditions associated with Alpha-1 Antitrypsin Deficiency, occurring due to paucity of AAT in circulation allowing uninhibited inflammation in lungs, and accumulation of mutated AAT in the liver
    Photomicrograph of a liver biopsy from a patient with alpha-1 antitrypsin deficiency. The PAS with diastase stain shows the diastase-resistant pink globules that are characteristic of this disease.
    Emphysema due to alpha-1-antitrypsin deficiency.
    Computed tomography of the lung showing emphysema and bullae in the lower lung lobes of a subject with type ZZ alpha-1-antitrypsin deficiency. There is also increased lung density in areas with compression of lung tissue by the bullae.
    Distribution of PiZZ in Europe.
    1. ^ abcdefghijklmnop"alpha-1 antitrypsin deficiency". Genetics Home Reference. January 2013. Retrieved 12 December 2017. 
    2. ^ abcdefghijklm"Alpha-1 antitrypsin deficiency". GARD. 2016. Retrieved 12 December 2017. 
    3. ^ abStradling, John; Stanton, Andrew; Rahman, Najib M.; Nickol, Annabel H.; Davies, Helen E. (2010). Oxford Case Histories in Respiratory Medicine. OUP Oxford. p. 129. ISBN 9780199556373. 
    4. ^Clark, VC (May 2017). "Liver Transplantation in Alpha-1 Antitrypsin Deficiency". Clinics in liver disease. 21 (2): 355–365. doi:10.1016/j.cld.2016.12.008. PMID 28364818. 
    5. ^ abMarciniuk, DD; Hernandez, P; Balter, M; Bourbeau, J; Chapman, KR; Ford, GT; Lauzon, JL; Maltais, F; O'Donnell, DE; Goodridge, D; Strange, C; Cave, AJ; Curren, K; Muthuri, S; Canadian Thoracic Society COPD Clinical Assembly Alpha-1 Antitrypsin Deficiency Expert Working, Group. "Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline". Canadian Respiratory Journal. 19 (2): 109–16. doi:10.1155/2012/920918. PMC 3373286. PMID 22536580. 
    6. ^Köhnlein, Thomas; Welte, T. (2007). Alpha-1 Antitrypsin Deficiency: Clinical Aspects and Management. UNI-MED Verlag AG. p. 16. ISBN 9781848151154. 
    7. ^ abcKumar V, Abbas AK, Fausto N, eds. (2005). Robbins and Cotran Pathological Basis of Disease (7th ed.). Elsevier/Saunders. pp. 911–2. ISBN 0-7216-0187-1. 
    8. ^Chen B, Wen Y, Polan ML (2004). "Elastolytic activity in women with stress urinary incontinence and pelvic organ prolapse". Neurourol. Urodyn. 23 (2): 119–26. doi:10.1002/nau.20012. PMID 14983422. 
    9. ^Silverman, Edwin K.; Sandhaus, Robert A. (2009-06-25). "Alpha1-Antitrypsin Deficiency". New England Journal of Medicine. 360 (26): 2749–2757. doi:10.1056/NEJMcp0900449. ISSN 0028-4793. PMID 19553648. 
    10. ^Donato, Leslie; Jenkins; et al. (2012). "Reference and Interpretive Ranges for α1-Antitrypsin Quantitation by Phenotype in Adult and Pediatric Populations". American Journal of Clinical Pathology. 138 (3): 398–405. doi:10.1309/AJCPMEEJK32ACYFP. PMID 22912357. Retrieved 17 January 2014. 
    11. ^ abSilverman EK, Sandhaus RA (2009). "Alpha1-Antitrypsin Deficiency". New England Journal of Medicine. 360 (26): 2749–2757. doi:10.1056/NEJMcp0900449. PMID 19553648. 
    12. ^Gøtzsche, Peter C.; Johansen, Helle Krogh (2016-09-20). "Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease". The Cochrane Database of Systematic Reviews. 9: CD007851. doi:10.1002/14651858.CD007851.pub3. ISSN 1469-493X. PMID 27644166. 
    13. ^Luisetti, M; Seersholm, N (February 2004). "Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency". Thorax. 59 (2): 164–9. doi:10.1136/thorax.2003.006494. PMC 1746939. PMID 14760160. 
    14. ^Laurell CB, Eriksson S (1963). "The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency". Scand J Clin Lab Invest. 15 (2): 132–140. doi:10.1080/00365516309051324. 
    15. ^Sharp H, Bridges R, Krivit W, Freier E (1969). "Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder". J Lab Clin Med. 73 (6): 934–9. PMID 4182334. 
    16. ^Mohanka M, Khemasuwan D, Stoller JK (June 2012). "A review of augmentation therapy for alpha-1 antitrypsin deficiency". Expert Opin Biol Ther. 12 (6): 685–700. doi:10.1517/14712598.2012.676638. PMID 22500781. 

    One thought on “Case Study 22 Emphysema Wikipedia

    Leave a Reply

    Your email address will not be published. Required fields are marked *