Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Psychiatry, McLean Hospital, Belmont, Massachusetts, USA.
Am J Med Genet A. 2022 Oct;188(10):2899-2907. doi: 10.1002/ajmg.a.62901. Epub 2022 Jul 15.
Prader-Willi Syndrome (PWS) is a multi-system genetic disorder characterized by hyperphagia and a range of medical complications. While register and cohort studies have explored the natural course of the syndrome, there is little nationally-representative data. In this study the National Inpatient Sample, a de-identified all-payors database of acute care hospital discharges in the United States, was queried for patients discharged with a diagnosis of PWS in 2019. Hospitalizations involving PWS were compared to hospitalizations without a PWS diagnosis matched based on demographic and hospital factors. In total, 540 hospitalizations (95% CI: 513-567) included a diagnosis of PWS. Median age at time of admission was 22 years, with an interquartile range of 6.3-37.8 years. Respiratory conditions accounted for 110 (20.4%) of primary discharge diagnoses, with infectious conditions for 70 (13.0%) and digestive conditions for 65 (12.0%). Hospitalizations involving PWS were significantly more likely to involve respiratory failure (OR 5.49; 95% CI 3.86-7.80), septicemia (OR 2.80, 95% CI 1.97-3.96), or intestinal obstruction and ileus (OR 6.29; 95% CI 3.70-10.7) compared to matched hospitalizations without PWS. Obesity was diagnosed in 230 PWS hospitalizations (42.6%; OR 3.86, 95% CI 3.17-4.72 relative to non-PWS hospitalizations). These results point to an ongoing need for the improved diagnosis and treatment of PWS complications, and highlight the importance of specific billing codes for rare diseases to enhance the collection of real world evidence.
普拉德-威利综合征(PWS)是一种多系统遗传疾病,其特征为食欲过盛和一系列医疗并发症。虽然登记和队列研究已经探索了该综合征的自然病程,但全国代表性数据很少。在这项研究中,美国国家住院患者样本(一个匿名的全美支付者数据库,包含了美国急性护理医院出院患者的信息)在 2019 年被查询了患有 PWS 诊断的患者。将 PWS 住院患者与根据人口统计学和医院因素匹配的无 PWS 诊断的住院患者进行比较。共有 540 例(95%CI:513-567)住院患者被诊断为 PWS。入院时的中位年龄为 22 岁,四分位间距为 6.3-37.8 岁。呼吸状况占主要出院诊断的 110 例(20.4%),其中感染性疾病占 70 例(13.0%),消化系统疾病占 65 例(12.0%)。与无 PWS 匹配的住院患者相比,涉及 PWS 的住院患者更有可能出现呼吸衰竭(OR 5.49;95%CI 3.86-7.80)、败血症(OR 2.80,95%CI 1.97-3.96)或肠梗阻和肠麻痹(OR 6.29;95%CI 3.70-10.7)。230 例 PWS 住院患者被诊断为肥胖症(42.6%;OR 3.86,95%CI 3.17-4.72,与非 PWS 住院患者相比)。这些结果表明,需要不断改进 PWS 并发症的诊断和治疗,并且突出了特定罕见病计费代码的重要性,以增强真实世界证据的收集。