OBJECTIVES: Pulmonary events (PEs) associated with alpha-1 antitrypsin deficiency (AATD) can inflict a severe clinical course and require increased healthcare resource use (HRU). Despite potential adverse clinical and economic consequences, AATD is largely unrecognized and under-diagnosed. Little information exists on disease burden and impact on the healthcare system. This study describes the burden of AATD in US patients.

METHODS: Claims from the Truven Health MarketScan database were retrospectively analyzed in patients with a second primary AATD diagnosis (index date) between 6/1/2008 and 12/31/2017, and ≥6 months of continuous enrollment preceding the second AATD diagnosis. Baseline characteristics, incidence of AATD-associated PEs, frequency of HRU, and healthcare costs during follow-up (i.e., interval from index date to the earliest of loss of continuous coverage, loss to follow-up, or study end) were assessed.

RESULTS: Among 5109 AATD patients, mean ± SD age was 48.33±17.50 years. At baseline, mean ± SD Charlson Comorbidity Index score was 1.33±1.59 and the mean ± SD number of hospitalizations was 0.22±0.64. Chronic obstructive pulmonary disease (COPD; 34.84%) and asthma (27.87%) were the most common pulmonary-related comorbidities at baseline. Emphysema accounted for 41.63% of COPD diagnoses and occurred among 14.50% of the AATD population. During follow-up, the incidence (95% CI) of PEs per 100 person-years was 56.55 (54.45–58.74) for exacerbations, 36.34 (34.82–37.92) for COPD, 17.57 (16.66–18.54) for chronic bronchitis, 13.54 (12.75–14.38) for emphysema, and 3.16 (2.81–3.54) for bronchiectasis. The mean ± SD annual number of outpatient visits was 6.35±12.05, of other visits was 2.04±7.34, of inpatient visits was 0.57±2.74, and of emergency room visits was 0.51±2.41. Mean ± SD annual total healthcare costs during follow-up were $52,665±$147,551, including $31,223±$136,188 for total medical costs and $21,461±$51,472 for total pharmacy costs.

CONCLUSIONS: Patients with AATD experienced a high incidence of PEs, frequent HRU, and high healthcare costs.