Improving Screening for Alpha-1 Antitrypsin Deficiency in Adults with COPD

Alpha-1 antitrypsin deficiency (AATD) is an underrecognized hereditary condition affecting approximately 2% of patients with chronic obstructive pulmonary disease (COPD) in the United States. Studies show a correlation between AATD and COPD progression, with a five-year mortality rate of 19% in severe AATD. National costs attributed to COPD were approximately $32.1 billion in 2010 and an estimated $49 billion in 2020. Chart audits at Onvida Health revealed that only 2.0% of patients diagnosed with COPD were tested for AATD. The authors aimed to improve effective care through AATD testing in adult patients with COPD in the primary care setting to 75% in an eight-week time frame.

Baseline data were obtained from chart audits for patients with COPD and patient/staff surveys. The implementation spanned eight weeks using a Plan-Do-Study-Act (PDSA) process consisting of four cycles and two core interventions analyzed every two weeks. A shared decision-making checklist was developed for AATD screening and testing. A standard of care log constructed from current evidence was implemented for all patients with COPD.

Testing rates improved to 38.1% from a baseline of 2.0%. Although there was a 0.0% positivity rate for the diagnosis of AATD (two abnormal alleles), 19.7% (n = 12 of 61) of patients were identified as AATD carriers (one abnormal and one normal allele).

Utilizing standard of care can aid in disease prevention and prevent progression with early identification of patients with AATD. Suggested next steps include lengthier studies to evaluate the carriers and their offspring.