Patients with alpha-1 antitrypsin deficiency (AATD) often experience substantial delays from the onset of symptoms to a diagnosis. We explored the impact of delayed diagnosis of AATD on healthcare costs and utilization by assessing costs/utilization before and after diagnosis. Retrospective claims data was used to conduct a longitudinal analysis of a cohort of patients with follow-up over four years in a commercial claims database was conducted. Patients with at least four years of claims experience between the years 2011 - 2017 were included in this study. Outcome measures were calculated for each year (Year 1 pre-index diagnosis, and Years 1, 2, and 3 post-index follow-up). Measures included healthcare costs (pharmacy and medical costs), medical costs, inpatient events, and emergency room visits. Unadjusted measures in the follow-up Year 1, Year 2, and Year 3 were compared to Year 1 pre-index. A separate multivariate analysis adjusting for age, sex, and comorbidities was conducted. Among 1258 patients, mean adjusted healthcare costs were significantly higher in Year 1 post-index compared to Year 1 pre-index ($51,785 vs $41,441, p = < 0.05). In Year 2 ($36,937 vs $41,441, p = < 0.05) and 3 ($28,558 vs $41,441, p = < 0.05) post-index, mean adjusted healthcare costs decreased compared to Year 1 pre-index. Adjusted medical costs were similar in Year 1 ($25,034) post-index compared to Year 1 ($22,952) pre-index but were significantly lower in Year 2 ($15,242 vs $25,034, p = < 0.05) and Year 3 ($8,779 vs $25,034, p = < 0.05) post-index. The frequency of inpatient and emergency room events was significantly lower in all three observation periods following diagnosis in the unadjusted analysis. The adjusted analysis showed similar findings, except for emergency room visits, which were similar across all observation periods. Patients with AATD had substantial healthcare costs/utilization in the year before diagnosis. Costs were significantly higher in the first year following diagnosis. However, subsequent years showed cost reductions to levels below pre-diagnosis. These data support the need for strategies to reduce the time from symptom onset to diagnosis.
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