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      Improving adherence to alpha-1 antitrypsin deficiency screening guidelines using the pulmonary function laboratory

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          Dear editor Alpha-1 antitrypsin deficiency (AATD) is the only well-recognized genetic disorder associated with an increased risk of emphysema and COPD.1 Identifying AATD allows genetic counseling and the chance to offer specific augmentation therapy to slow emphysema progression. Despite specific recommendations from the World Health Organization, American Thoracic Society and European Respiratory Society to screen all patients with COPD and other at-risk conditions,2–4 testing rates are low (<15%).5 We conducted a project to improve AATD screening at the Miami VA Medical Center using the pulmonary function test (PFT) laboratory. We instructed the PFT personnel to perform reflex testing on all patients with pre-bronchodilator airflow obstruction (forced expiratory volume in 1 second/forced vital capacity <70%) and then evaluated if the screening was appropriate according to guidelines. Trained PFT personnel explained AATD disease to patients and provided them with an informational brochure. After obtaining verbal consent, AATD screening was performed using dried blood spot kits provided by the Alpha-1 Foundation as part of the Florida Screening Program (noncommercial).6 The PFT lab director was the responsible physician of record, in charge of discussing positive results to patients and documenting results in the electronic medical record. The Miami Veterans Affairs Medical Center Institutional Review Board approved the protocol as a quality improvement project. Since launching the program, testing rates in our center had a 15-fold increase from baseline. In 4 years, the PFT laboratory performed 78% of the 1,021 tests ordered in our institution, leading to a decrease in the number of tests done by the pulmonary clinic (Figure 1). Review of the 799 cases tested by the PFT laboratory found that 671 (83%) had an appropriate clinical indication for screening according to guidelines.3,4 The remaining subjects tested had mostly asthma (9.6%), other reasons for airflow obstruction such as sarcoidosis (2.2%) or did not have airflow obstruction (5%). Importantly, the COPD patients tested by the PFT laboratory were more likely to be active smokers with significantly better lung function compared with those tested at the pulmonary clinic (Table 1). Our experience highlights the importance of partnering with PFT laboratory personnel to improve AATD testing rates. Respiratory therapists are exposed to a higher number of pulmonary patients at risk for AATD than pulmonologists and can improve detection of affected individuals in the course of their routine practices.7 Continued education efforts and focusing on testing subjects with persistent airflow obstruction after bronchodilator testing could further reduce unnecessary testing rates. We conclude that reflex AATD testing by PFT personnel is an effective way to comprehensively and appropriately test subjects at risk. Furthermore, this strategy appears to identify a population that is more amenable to benefit from detection at an earlier disease stage.

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          Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting.

          alpha 1-Antitrypsin (AAT) deficiency, also known as alpha 1-antiprotease inhibitor deficiency, is a disease caused by genetically determined AAT deficiency. It occurs as a result of inheritance of two protease inhibitor (PI) deficiency alleles from the AAT gene locus (designated PI) on chromosomal segment 14q32.1. The most common deficiency allele is PI*Z and a large majority of individuals with severe AAT deficiency are PI type ZZ. The disease occurs predominantly in white persons of European origin and its frequency in Europe and North America is comparable to that of cystic fibrosis (1 in 2000 to 1 in 7000.) Persons with AAT deficiency may have no clinical manifestations. Chronic obstructive pulmonary disease (COPD) with a high frequency of panacinar emphysema is the most prevalent clinical disorder associated with AAT deficiency and the most frequent cause of disability and death. Tobacco smoking is the major risk factor for developing COPD, which generally begins by the third decade of life, much earlier than "usual" COPD that occurs in AAT-replete individuals. Liver disease, the second most frequent clinical manifestation of AAT deficiency, typically presents as cholestasis in infancy but is usually not severe and generally remits by adolescence. Chronic liver disease develops infrequently, although AAT deficiency is the commonest cause of chronic liver disease in childhood. Cirrhosis and carcinoma of the liver affect at least 25% of AAT-deficient adults over the age of 50 years. AAT deficiency appears to be widely underdiagnosed and based on predicted gene frequencies even in the most intensely studied populations, only a small proportion of those predicted to have AAT deficiency have been diagnosed. Human AAT is available in limited quantity for augmentation therapy. This Memorandum summarizes the discussions and recommendations made by participants at a WHO meeting held in Geneva on 18-20 March 1996 to review existing knowledge about this highly prevalent genetic disorder, develop a strategy for enhancing awareness of it among health-care-givers and the general public, and explore new case-finding and disease-prevention strategies.
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            The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.

            Background: The diagnosis and clinical management of adults with alpha-1 antitrypsin deficiency (AATD) have been the subject of ongoing debate, ever since the publication of the first American Thoracic Society guideline statement in 1989.1 In 2003, the "American Thoracic Society (ATS)/European Respiratory Society (ERS) Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency" made a series of evidence-based recommendations, including a strong recommendation for broad-based diagnostic testing of all symptomatic adults with chronic obstructive pulmonary disease (COPD).2 Even so, AATD remains widely under-recognized. To update the 2003 systematic review and clinical guidance, the Alpha-1 Foundation sponsored a committee of experts to examine all relevant, recent literature in order to provide concise recommendations for the diagnosis and management of individuals with AATD. Purpose: To provide recommendations for: (1) the performance and interpretation of diagnostic testing for AATD, and (2) the current management of adults with AATD and its associated medical conditions. Methods: A systematic review addressing the most pressing questions asked by clinicians (clinician-centric) was performed to identify citations related to AATD that were published since the 2003 comprehensive review, specifically evaluating publications between January 2002 and December 2014. Important, more recent publications were solicited from the writing committee members as well. The combined comprehensive literature reviews of the 2003 document and this current review comprise the evidence upon which the committee's conclusions and recommendations are based. Results: Recommendations for the diagnosis and management of AATD were formulated by the committee. Conclusions: The major recommendations continue to endorse and reinforce the importance of testing for AATD in all adults with symptomatic fixed airflow obstruction, whether clinically labeled as COPD or asthma. Individuals with unexplained bronchiectasis or liver disease also should be tested. Family testing of first-degree relatives is currently the most efficient detection technique. In general, individuals with AATD and emphysema, bronchiectasis, and/or liver disease should be managed according to usual guidelines for these clinical conditions. In countries where intravenous augmentation therapy with purified pooled human plasma-derived alpha-1 antitrypsin is available, recent evidence now provides strong support for its use in appropriate individuals with lung disease due to AATD.
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              The challenge of detecting alpha-1 antitrypsin deficiency.

              Alpha-1 antitrypsin deficiency (AATD) is relatively common but under-recognized. Indeed, fewer than 10% of the estimated 100,000 Americans with AATD have been diagnosed currently, with common reports of long delays between initial symptoms and first detection and the need to see multiple physicians before diagnosis. Because detection can confer benefits (e.g., identification of at-risk family members, lower smoking likelihood, consideration of augmentation therapy), targeted detection of AATD in at-risk groups such as all symptomatic adults with COPD has been endorsed. Two general approaches to detection have been studied: population-based screening (in which testing is performed in a group for whom no increased risk of having AATD exists) and targeted detection or case-finding (in which testing is confined to those with an attributable condition such as COPD or chronic liver disease). Studies to date have suggested that population-based screening is not cost-effective, whereas targeted detection of AATD has been advocated by official society guidelines. Efforts to enhance detection of AATD individuals have included various approaches, including educational campaigns, provision of free test kits, issuance of reminders with medical reports or within an electronic medical record, and empowering respiratory therapists to conduct testing for AATD in pulmonary function laboratories. Such programs have identified individuals with severe deficiency of alpha-1 antitrypsin in up to 12% of subjects, with considerable variation across series by testing criteria. Overall, the persistence of under-recognition of AATD underscores the need for continued efforts to optimize detection of this potentially debilitating genetic disease.

                Author and article information

                Int J Chron Obstruct Pulmon Dis
                Int J Chron Obstruct Pulmon Dis
                International Journal of COPD
                International Journal of Chronic Obstructive Pulmonary Disease
                Dove Medical Press
                31 July 2017
                : 12
                : 2257-2259
                [1 ]Miami Veterans Administration Medical Center, Miami, FL
                [2 ]Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Miami School of Medicine, Miami, FL, USA
                Author notes
                Correspondence: Michael Campos, Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, University of Miami School of Medicine, Miami, FL 33136, USA, Tel +1 305 243 3045, Fax +1 305 575 3412, Email mcampos1@
                © 2017 Luna Diaz et al. This work is published and licensed by Dove Medical Press Limited

                The full terms of this license are available at and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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