{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:42:39Z","timestamp":1761986559877},"reference-count":20,"publisher":"Oceanside Publications Inc.","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["allergy asthma proc"],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that mainly affecting the liver and the lung. This creates difficulties to ensure that comprehensive care is administered to both organ systems. Past assessments of care delivered to patients with AATD\n demonstrated that improvements are needed. For that reason, we reassessed a population of patients with AATD in a large health care system to see if past findings affected present care.  <jats:bold>Methods:<\/jats:bold> We performed electronic health record (EHR) reviews on all patients with documented\n AATD and confirmed the diagnosis by evidence of genotyping. We then selected the patients with the ZZ genotype to review comprehensive care. We further compared the findings in patients treated by different specialists (allergy immunology, gastroenterology, and pulmonary). The data were captured\n and assessed by using a secure web application for building and managing online surveys and data bases. REDCap.  <jats:bold>Results:<\/jats:bold> We found a total of 329 patients with diagnostic codes for AATD, of these, 203 patients had a confirmed abnormal genotype. Confirmed genotypes were MZ\n (n = 69), ZZ (n = 48), MS (n = 22), SZ (n = 22). Further focus was applied to the care of the ZZ population secondary to a predisposition to potential severe lung and liver disease. The findings suggest that care can be improved no matter which specialist cares for the patient.  <jats:bold>Conclusion:<\/jats:bold>\n Our study demonstrated that all three subspecialty groups had room for improvement in providing care to patients with AATD. Our study further demonstrated the need for recurrent quality-assurance programs that may be aided by care suggestions built into the EHR.<\/jats:p>","DOI":"10.2500\/aap.2021.42.210067","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T20:07:14Z","timestamp":1638821234000},"page":"537-542","source":"Crossref","is-referenced-by-count":2,"title":["The need for continuous quality assessment for providing optimal comprehensive care for patients with alpha-1 antitrypsin deficiency"],"prefix":"10.2500","volume":"42","author":[{"given":"Anna","family":"Ptasinski","sequence":"first","affiliation":[{"name":"From the Penn State College of Medicine, Hershey, Pennsylvania;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Colello","sequence":"additional","affiliation":[{"name":"From the Penn State College of Medicine, Hershey, Pennsylvania;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Ptasinski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Akron Children's Hospital, Akron, Ohio;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gavin","family":"Barclay","sequence":"additional","affiliation":[{"name":"Lafayette College, Easton, Pennsylvania; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Craig","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy and Critical Care, Department of Medicine and Pediatrics, Penn State Health, Hershey, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1355","reference":[{"key":"B1","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.cld.2018.06.010","article-title":"Alpha-1-antitrypsin deficiency liver disease","volume":"22","author":"Patel","year":"2018","journal-title":"Clin Liver Dis"},{"key":"B2","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1164\/rccm.168.7.818","article-title":"American Thoracic Society\/European Respiratory Society statement: standard for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency","volume":"168","year":"2003","journal-title":"Am J Respir Crit Care Med"},{"key":"B3","article-title":"Alpha 1 antitrypsin deficiency","author":"Meseeha","year":"2020","journal-title":"StatPearls"},{"key":"B4","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1710-1492-7-18","article-title":"A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F\/null phenotype","volume":"7","author":"Ringenbach","year":"2011","journal-title":"Allergy Asthma Clin Immunol"},{"key":"B5","first-page":"1993","article-title":"Alpha-1 antitrypsin deficiency","volume-title":"GeneReviews","author":"Stoller","year":"2020"},{"key":"B6","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1378\/chest.122.5.1818","article-title":"Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys","volume":"122","author":"de Serres","year":"2002","journal-title":"Chest"},{"key":"B7","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.1111\/all.13558","article-title":"Advances in managing COPD related to \u03b11-antitrypsin deficiency: an under-recognized genetic disorder","volume":"73","author":"Craig","year":"2018","journal-title":"Allergy"},{"key":"B8","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.amjmed.2011.12.014","article-title":"Detection of alpha-1 antitrypsin deficiency in the US","volume":"125","author":"Campos","year":"2012","journal-title":"Am J Med"},{"key":"B9","doi-asserted-by":"crossref","first-page":"461","DOI":"10.3949\/ccjm.61.6.461","article-title":"Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey","volume":"61","author":"Stoller","year":"1994","journal-title":"Cleve Clin J Med"},{"key":"B10","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1586\/17474124.2014.943187","article-title":"Alpha-1 antitrypsin and liver disease: mechanisms of injury and novel interventions","volume":"9","author":"Teckman","year":"2015","journal-title":"Expert Rev Gastroenterol Hepatol"},{"key":"B11","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1016\/j.jaip.2017.01.008","article-title":"The allergist's role in detection of severe alpha-1 antitrypsin deficiency","volume":"5","author":"Kelbel","year":"2017","journal-title":"J Allergy Clin Immunol Pract"},{"key":"B12","first-page":"668","article-title":"The diagnosis and management of alpha-1 antitrypsin deficiency in the adult","volume":"3","author":"Sandhaus","year":"2016","journal-title":"Chronic Obstr Pulm Dis"},{"key":"B13","first-page":"1990","article-title":"Chronic obstructive pulmonary disease","volume-title":"Harrison's Principles of Internal Medicine","author":"Silverman","year":"2018"},{"key":"B14","article-title":"Quality assurance","author":"Klein","journal-title":"StatPearls"},{"key":"B15","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research Electronic Data Capture (REDCap) \u2013 a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J Biomed Inform"},{"key":"B16","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1164\/rccm.202003-0625ST","article-title":"Pharmacologic management of chronic obstructive pulmonary disease. 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