A Novel Approach to Screening for Alpha-1 Antitrypsin Deficiency: Inpatient Testing at a Teaching Institution.

ABSTRACT: Chronic obstructive pulmonary disease (COPD) currently affects more than 16 million Americans and it is estimated that roughly 100,000 Americans have undiagnosed, severe alpha-1 antitrypsin deficiency (AATD) (Chest. 2005;128[3]:1179-1186) (Chest. 2002;122[5]:1818-1829). Patients with AATD have an accelerated rate of decline of lung function caused by proteolytic enzymes. The morbidity associated with this inherited disorder is preventable due to the availability of augmentation therapy. Appropriate inpatient screening of patients with COPD for AATD is lacking and most screening is exclusively limited to outpatient pulmonary clinics. Between May 2016 and February 2017, genetic screening was completed on 54 individuals who were admitted with either a former diagnosis of COPD or

SUBMITTER: Tasch JJ 

PROVIDER: S-EPMC6190526 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature