Purpose

The vast majority of rare diseases (RDs) are complex, disabling, and life-threatening conditions with a genetic origin. RD patients face significant health challenges and limited treatments, yet the extent of their impact within health care is not well known. One direct method to gauge the disease burden of RDs is their overall cost and utilization within health-care systems.

Methods

The 2016 Healthcare Cost and Utilization Project (HCUP) databases were used to extract health-care utilization data using International Classification of Diseases, Tenth Revision (ICD-10) codes.

Results

Of 35.6 million national hospital weighted discharges in the HCUP Nationwide Inpatient Sample, 32% corresponded to RD-associated ICD-10 codes. Total charges were nearly equal between RDs ($768 billion) compared to common conditions (CCs) ($880 billion) (p < 0.0001). These charges were a result of higher charges per discharge and longer length of stay (LOS) for RD patients compared to those with CCs (p < 0.0001). Health-care cost and utilization was similarly higher for RDs with pediatric inpatient stays, readmissions, and emergency visits.

Conclusion

Pediatric and adult discharges with RDs show substantially higher health-care utilization compared to discharges with CCs diagnoses, accounting for nearly half of the US national bill.

中文翻译：

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你现在能听到我们的声音吗？美国罕见病患者对医疗保健利用的影响

目的

绝大多数罕见病 (RD) 都是具有遗传起源的复杂、致残和危及生命的疾病。RD 患者面临着重大的健康挑战和有限的治疗，但他们在医疗保健中的影响程度尚不清楚。衡量 RD 疾病负担的一种直接方法是它们在医疗保健系统中的总体成本和利用率。

方法

2016 年医疗保健成本和利用项目 (HCUP) 数据库用于使用国际疾病分类第十修订版 (ICD-10) 代码提取医疗保健利用数据。

结果

在 HCUP 全国住院患者样本中的 3560 万次全国医院加权出院中，32% 对应于 RD 相关的 ICD-10 代码。RD 之间的总费用（7680 亿美元）与普通条件（CC）（8800 亿美元）相比几乎相等（p  < 0.0001）。与 CCs 患者相比，RD 患者每次出院的费用更高，住院时间 (LOS) 更长（p  < 0.0001）。有儿科住院、再入院和急诊就诊的 RD 的医疗保健成本和利用率同样较高。

结论

与诊断为 CC 的出院相比，患有 RD 的儿科和成人出院显示出更高的医疗保健利用率，占美国国家账单的近一半。