Real-World Healthcare Resource Utilization and Related Costs Associated With Ultrarare Diseases in the Brazilian Private Market

OBJECTIVES: Ultrarare diseases (UD) patients face significant health challenges and limited treatments and their impact within Brazilian healthcare unknown. This study investigated healthcare resource utilization (HCRU) to provide a better understanding of the collective health and economic impacts.

METHODS: We identify conditions with prevalence less than or equal to 1 case for every 50,000 in our population resulting in a database of 289 ICD-10 list of UD. Common conditions (CCs) were defined as any condition not included neither in this list nor on own list linked as of rare diseases primarily provided by Orphanet. Data from January/2019 to December/2023 were used to extract HCRU and costs and aggregated by prevalence, costs, and demography. Direct medical costs were calculated annually for patients with costs independent of the stage of diagnosis. Chi-square and Fisher’s exact and Student’s t tests for categorical/continuous measures were used. Statistical significance for p<0.05.

RESULTS: A total of 60,012 individuals (average age 53 years) were analyzed. When combined, UD collectively affect 0.5% (n=283, 61 years old, female 61.1%). Of $367 million expenses in the health plan, 2.2% corresponded to UD-associated ICD-10 codes. Overall, total aggregate charges were $8 million for UDs and $359 million CCs, a despite UD patients accounting for a very small percentage of population. The study shows significant differences in HCRU between UD and CCs with a higher utilization for visits, emergency services, tests, therapies and hospitalizations when compared to CCs (p<0.0001), and nearly quintuple the average total charges per patient ($8,646) compared to CCs ($1,960) (p<0.0001).

CONCLUSIONS: Our study suggests that UD have high medical burdens to patients and collectively represent a significant impact to the healthcare system. This study will increase the knowledge of UD and help health managers to improve national policy on UD in Brazilian private market.