OBJECTIVES: To estimate healthcare resource utilization (HCRU) and costs for patients with hATTR amyloidosis, a rare genetic, progressive and fatal disease caused by build-up of misfolded transthyretin protein (amyloid) in organs and tissues.

METHODS: Using Truven Health Analytics MarketScan® Commercial and Medicare Supplemental data, we identified patients ≥18 years newly diagnosed with hATTR amyloidosis. Diagnosis required ≥1 medical claim with a relevant diagnosis code (ICD-9-CM 277.30-31, 277.39; ICD-10-CM E85.0-4, E85.82-89, E85.9) between 7/1/12-9/30/16 and ≥1 additional qualifying criteria occurring any time during 2012-2016 (study period): ≥15 days diflunisal use without >30-day gap, liver transplant, or claim with code E85.1. First diagnosis date was the study index. Patients were enrolled 6 months pre-index (baseline period) and followed ≥3 months post-index until enrollment or study end, whichever occurred first. One-year HCRU and costs were reported quarterly (every 3 months) post-index.

RESULTS: Among 150 qualifying newly diagnosed patients, mean age was 60.5(SD:15.0), 56% were female, and baseline Charlson comorbidity index was 2.0(2.4). By one year post-index, enrollment decreased to 58. In each quarter post-index, proportion of patients hospitalized was 17%, 9%, 9%, and 14%. Approximately 1 out of 10 patients had evidence of liver transplant. Occurrence of ED visits was 18%, 15%, 10%, and 19%; mean number of physician office visits was 3.8(3.3), 2.7(3.6), 2.7(2.6), and 3.4(3.5); mean prescription fills were 11.5(8.8), 10.2(8.6), 10.3(8.7), and 11.2(9.0). Mean total costs by quarter were $22,299, $16,924, $9,818, and $16,262. Medical costs were highest in quarter one: $10,925 (inpatient) and $9,385 (outpatient); pharmacy costs were highest in quarter four ($2,081).

CONCLUSIONS: Patients newly diagnosed with hATTR amyloidosis have substantial HCRU and costs in the first year. This study contributes to our understanding about this disease burden. As with other fatal diseases, disease progression, especially near death, is often associated with higher costs, thus, warranting further research.