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not receiving AAT therapy in the UK-AATD patient registry, who were followed for a median of seven years, showed a direct correlation with decline in respiratory function, but the worsening of SGRQ scores was slow and consistent with advanced age and natural disease progression. Therefore, health status, as determined by the SGRQ, does not seem to constitute an ideal outcome in the controlled setting of clinical trials since its change over time is poorly correlated with physiological deterioration in AATD. 18 In addition to pharmacological approaches and surgical procedures, mainly lung transplantation, lifestyle changes, including smoking cessation, regular physical activity (for example, aerobic exercise and intensity resistance training) as well as pulmonary rehabilitation, can improve exercise capacity and HRQoL, further reducing symptomatic burden and health care resource utilisation. Other preventive measures such as avoiding exposure to passive smoking, dust or fumes and immunisation against pathogens that target the lungs and the liver can prevent exacerbations and worsening of the condition. 4 An analysis of 3526 patients with AATD, who were enrolled in a disease management and prevention programme providing education and interventions focusing on these preventive measures, generated encouraging evidence, showing that those individuals who read and complied with the information on self-management of AATD contained in a free reference guide were more likely to exercise, stop smoking, and receive the appropriate vaccination against influenza, pneumonia and hepatitis A and B. 19 as the need for the medication to be administered by a nurse. However, its associated costs are lower than those of therapies for other rare genetic pulmonary diseases such as cystic fibrosis. It is important to note that these high costs of treatment can eventually be attenuated by the lower expenses incurred with decreased hospital stays compared with patients with rapid lung function decline. 4 Although improvement of HRQoL is one of the goals of treatment, there are limited data on its impact on HRQoL. A small study in Europe showed that home infusions, administered by a nurse, were associated with reduced frequency of exacerbations and decline in lung function when compared to an historical cohort. 17 A recent meta- analysis of randomised clinical trials evaluating treatment options for severe AATD revealed a small decline in the health status, measured as the number of exacerbations per year, of patients receiving AAT therapy. Although these differences were not statistically significant, the worsening of SGRQ scores in patients receiving placebo was greater than in those receiving AAT. 15 Although HRQoL parameters are frequently used descriptively or as outcome measures in the evaluation of patients with chronic respiratory disorders, namely COPD, their use in AATD has not been validated. An analysis of 454 patients References 1 Viegi G et al. Definition, epidemiology and natural history of COPD. Eur Respir J 2007;30:993. 2 Blanco I et al. Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 2006;27:77–84. 3 Miravittles M et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 - antitrypsin deficiency. Eur Respir J 2017;50:pii 1700610. 4 Chapman KR et al. Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications. Int J Chron Obstruct Pulmon Dis 2018;13:419–32. 5 Greulich T, Vogelmeier CF. Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Ther Adv Respir Dis 2016;10:72–84. 6 Sandhaus RA et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis 2016;3:668–82. 7 Lascano JE, Campos MA. The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency. Postgrad Med 2017;129:889–95. 8 Hoth KF et al. Prospective impact of illness uncertainty on outcomes in chronic lung disease. Health Psychol. 2013;32:1170–74. 9 Hoth KF et al. The social environment and illness uncertainty in chronic obstructive Conclusions The phenotype of AATD and its impact on HRQoL is highly heterogeneous, with progressive degradation of health status occurring due to presence of emphysema. 20 The clinical programme evaluating AAT therapy has confirmed the importance of early detection and treatment in order to preserve lung tissue. 4 However, given the high costs of AAT therapy, there is a need to select for patients who are most likely to benefit from this therapy. The identification of symptomatic patients and those at risk of developing the disease is fundamental, so that lifestyle modifications and proper clinical monitoring can be promptly implemented. 4 Because disease-modifying therapy is not truly curative, improvements in HRQoL measures currently constitute an important goal in efficacy studies, which can be complemented with assessments of the expected benefits, risks, and costs of treatment. 20 pulmonary disease. Int J Behav Med 2015;22:223–32. 10 Domingo-Salvany A et al. Health-related quality of life and mortality in male patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2002;166:680–5. 11 Wilke S et al. One-year change in health status and subsequent outcomes in COPD. Thorax 2015;70:420–5. 12 Jones PW et al. A self- complete measure of health status for chronic airflow limitation. The St. George’s Respiratory Questionnaire. Am Rev Respir Dis 1992;145:1321–7. 13 Bernhard N et al. Deterioration of quality of life is associated with the exacerbation frequency in individuals with alpha-1-antitrypsin deficiency - analysis from the German Registry. Int J Chron Obstruct Pulmon Dis 2017;12:1427–37. 14 Karl FM et al. Costs and health-related quality of life in Alpha-1-Antitrypsin deficient COPD patients. Respir Res 2017;18:60. 15 Edgar RG. Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review. Int J Chron Obstruct Pulmon Dis 2017;12:1295–1308. 16 Rahagi FF, Miravittles M. Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence. Respir Res 2017;18:105. 17 Teschler H. Long-term experience in the treatment of α1-antitrypsin deficiency: 25 years of augmentation therapy. Eur Respir Rev 2015;24:46–51. 18 Stockley RA et al. Health status decline in α-1 antitrypsin deficiency: a feasible outcome for disease modifying therapies? Respir Res 2018;19:137. 19 Perkins JT et al. Benefits among patients with Alpha-1 antitrypsin deficiency enrolled in a disease management and prevention program Chronic Obstr Pulm Dis 2016;4:56–64. 20 Stockley RA. Alpha-1 antitrypsin deficiency: Phenotypes and quality of life. Ann Am Thorac Soc 2016;13 Suppl 4:S332–5. hospitalpharmacyeurope.com | 2019 | 15