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 active COPD exacerbation to Arnot Ogden Medical Center (AOMC) in Elmira, New York. The incorporation of inpatient genetic screening by resident physicians for AATD in COPD patients led to a high rate of screened and newly diagnosed AATD carriers with a variety of AATD genotypes. It is recommended that there should be an expansion of screening for AATD in hospitalized patients with COPD, regardless of age or smoking history.