Increasing Testing in Alpha1-antitrypsin Deficiency


been favorable with the algorithm found in Figure 1. The respiratory therapists have been very effective in appropriately identifying the individuals eligible (96.7% accurate): only 3.3% misclassified patients according to a study at our facility.25


According to our experience, the


time needed to explain AATD and the benefits of testing has been less than eight minutes, with over 80% of patients agreeing to be tested.31 Patients would then get notified/guided by the respiratory therapist or the PFT laboratory medical director, depending on the results (see Figure 1).


Other methods can seek to help physicians become more comprehensive in their evaluations through creation of medical reminders such as implementing a physician alert on PFT reports. Other possibilities include creating management templates or testing lists that


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2.


Stoller JK, Snider GL, Brantly ML, et al., 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;168:818–55.


3.


Gadek JE, Fells GA, Zimmerman RL, et al., Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema, J Clin Invest, 1981;68:889–98.


4.


de Serres FJ, Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: details of an analysis of published genetic epidemiological surveys, Chest, 2002;122:1818–29.


5. DeMeo DL, Silverman EK, a1-antitrypsin deficiency. 2: genetic aspects of a1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk, Thorax, 2004;59: 259–64.


6. The Alpha-1-Antitrypsin Deficiency Registry Study Group, Survival and FEV1 decline in individuals with severe deficiency of 1-antitrypsin, Am J Respir Crit Care Med, 1998;158:49–59.


7.


Campos MA, Wanner A, Zhang G, Sandhaus RA, Trends in the diagnosis of symptomatic patients with 1-antitrypsin deficiency between 1968 and 2003, Chest, 2005;128(3):1179–86.


8. 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.


9.


Pauwels RA, Buist AS, Calverley PM, Jenkins CR, Hurd SS, Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: NHLBI/WHO Global Initiative for Chronic Obstructive Lung Disease (GOLD) (updated 2009), 38.


10.


Brantly M, Wittes JT, Vogelmeier CF, et al., Use of a highly purified alpha-1 antitrypsin standard to establish ranges for the common normal and deficiency phenotypes, Chest,


18. 19. 20. 21. 1991;100:703–8. 11.


Gorg A, Postel W, Weser J, Patutscchnick W, Cleve H, Improved resolution of Pi (alpha-1 antitrypsin) phenotypes by a large-scale immobilized pH gradient, Am J Hum Genet, 1985;37:922–30.


12.


Borawski J, Naumnik B, Myliwiec M, Serum, Alpha 1-antitrypsin but not complement C3 and C4 predicts chronic inflammation in hemodialysis patients, Ren Fail, 2003;25:589–93.


13. 14.


Silverman E, Sandhaus R, Alpha1-antitrypsin deficiency, N Engl J Med, 2009;360:2749–57.


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;140:961–6.


15.


Hamosh A, FitzSimmons SC, Macek M Jr, et al., Comparison of the clinical manifestations of cystic fibrosis in black and white patients, J Pediatr, 1998;132: 255–9.


16.


De Serres FJ, Worldwide racial and ethnic distribution of alpha 1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys, Chest, 2002;122(5):1818–29.


17.


Gishen P, Saunders AJ, Tobin MJ, Hutchison DC, Alpha-1- antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic Association, Clin Radiol, 1982;33(4):371–7.


Lieberman J, Winter B, Sastre A, Alpha I-antitrypsin Pirypes in 965 COPD patients, Chest, 1986;89:370–3.


Stoller J, Aboussouan L, Myths and misconceptions about alpha 1-antitrypsin deficiency, Arch Intern, 2009;169(6).


Hogarth DK, Rachelefsky G, Screening and familial testing of patients for alpha 1-antitrypsin deficiency, Chest, 2008;133(4):981–8.


Brantly M, Efficient and accurate approaches to the laboratory diagnosis of 1-antitrypsin deficiency: the promise of early diagnosis and intervention, Clinical Chemistry, 2006;52:2180–1.


22. Brantly M, Laboratory diagnosis of alpha-1 antitrypsin 31. 23. 24.


include AAT testing as a checkbox option, resulting in both a reminder and an immediate actionable item.32


Conclusion


We have not found nine out of 10 patients affected with AATD in the US. The challenges are numerous and include misconceptions, hard-dying old habits, knowledge gaps, and lack of protocols. There is a great need for us to consider new approaches to educational messages, to try to reach new people and do it differently. We also have the possibility to look at new information technologies to provide reminders and install protocols. Lastly, we can recruit respiratory therapists and allied health professionals to help follow testing protocols systematically. Let us hope that in 10 years we look back and are satisfied with our results. n


deficiency. In: Crystal R, ed, Alpha-1 Antitrypsin Deficiency, New York: Marcel Dekker Inc., 1995:45–60.


Dickson MR, Carter CL, Carpenter MJ, et al., Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency, Genet Test, 2008;12(4):501–5.


Rahaghi FF, Qureshi O, Warda AH, et al., Testing for Alpha-1 Antitrypsin Deficiency by Respiratory Therapists in the Pulmonary Education and Rehabilitation Department, ATS, 2010.


25.


Rahaghi FF, Ortega Il, Rahaghi N, et al., Physician alert suggesting alpha-1 antitrypsin deficiency testing in pulmonary function test (PFT) results, COPD, J Chron Obstruct Pulmon Dis, 2009;6(1):26–30.


26. 27.


Michie S, Johnson M, Changing clinical behaviour by making guidelines specific, BMJ, 2004;328:343–5.


Bloom B, Effects of continuing medical education on improving physician clinical care and patient health: a review of systematic reviews, Int J Technol Assess Health Care, 2005;21:3,380–5.


28.


Taliercio RM, Chatburn RL, Stoller JK, Knowledge of alpha-1 antitrypsin deficiency among internal medicine house officers and respiratory therapists: results of a survey, Respir Care, 2010;55(3):322–7.


29.


Rahaghi FF, Qureshi O, Ferrer G, et al., Physicians’ Views on Targeted Alpha-1 Antitrypsin Testing by Respiratory Therapists in PFT labs and Their Awareness of Protections offered by the Genetic Information Nondiscrimination Act (GINA), Chest Meeting, 2010.


30.


Ely E, Bennett P, Bowton D, et al., Large scale implementation of a respiratory therapist- driven protocol for ventilator weaning, Am J Respir Crit Care Med, 1999;159(2):439–46.


Rahaghi FF, Qureshi O, Warda AH, et al., Testing for Alpha-1 Antitrypsin Deficiency by Respiratory Therapists in the Pulmonary Education and Rehabilitation Department, ATS, 2010.


32.


Chastain V, Zaitoun H, Araguez N, et al., Effect of Having α-1 Antitrypsin Testing In Physicians Laboratory Workup Lists In Early Detection Of α 1-Antitrypsin Deficiency, Chest Meeting, October 1, 2009 136:88S.


US RESPIRATORY DISEASE


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