Zayat Roaa, Piura Yoav D, Appleby Brian S, Robinson Maisha T, Day Gregory S
Department of Neurology, Mayo Clinic, Jacksonville, FL.
Department of Internal Medicine, Mayo Clinic, Jacksonville, FL; and.
Neurology. 2025 Sep 23;105(6):e214076. doi: 10.1212/WNL.0000000000214076. Epub 2025 Sep 2.
Timely access to palliative care, a specialty focusing on improving quality of life for patients with serious medical conditions, is central to patients with prion disease. To optimize evidence-informed utilization of palliative care resources, we systematically evaluated the frequency of clinical features amenable to supportive care, the frequency and patterns of referral to specialty palliative care, and the methods of palliative care delivery in patients with prion disease across a multicenter health care system.
A retrospective review was conducted on electronic medical records of patients diagnosed with definite (neuropathologically or genetically confirmed) or probable prion disease (meeting established clinical criteria for Creutzfeldt-Jakob disease) in inpatient and outpatient settings from January 2012 to August 2023 across the Mayo Clinic enterprise. Symptoms and signs amenable to supportive interventions were systematically abstracted, and associations with utilization of palliative care services were considered (primary outcome). Statistical analyses were performed with SPSS, version 28.0.
One hundred seventy-two patients with symptomatic prion disease were identified (median age at symptom onset, 65.4 years, range 20.2-85.4; 50.6% female). One hundred sixty-five (94.8%) patients experienced ≥1 symptom or sign amenable to supportive care. One hundred thirteen (65.7%) patients accessed palliative care resources, including hospice care (61.1%), palliative care consultation (12.4%), or both (26.5%). Behavioral changes (odds ratio [OR] 2.70, 95% CI 1.15, 6.32) and constipation (OR 4.92, 95% CI 1.02, 23.60) were independently associated with referral for palliative care services. Emergency department visits (OR 2.29, 95% CI 1.04, 5.03) and hospital admissions (OR 4.32, 95% CI 2.21, 8.47) were also associated with referrals. Hospice care and inpatient palliative care services were accessed more promptly (median 1.0 days, range 0-133.0) than outpatient consultations (median 19.0 days, range 6.0-64.0; < 0.001).
Despite the terminal nature of prion disease and the near universal prevalence of symptoms and signs amenable to supportive care, more than one-third of patients with prion disease did not access specialty palliative care resources. These findings highlight an opportunity to promote early access to palliative care resources that support symptom management and reinforce patient autonomy by clarifying goals of care and advance care planning for patients with prion disease.
及时获得姑息治疗对于朊病毒病患者至关重要，姑息治疗是一门专注于提高重症患者生活质量的专业学科。为了优化基于证据的姑息治疗资源利用，我们在一个多中心医疗系统中，系统评估了适合支持性护理的临床特征出现的频率、转诊至专科姑息治疗的频率和模式，以及朊病毒病患者接受姑息治疗的方式。
对2012年1月至2023年8月梅奥诊所企业内住院和门诊环境中诊断为确诊（经神经病理学或基因证实）或疑似朊病毒病（符合克雅氏病既定临床标准）的患者的电子病历进行回顾性分析。系统提取适合支持性干预的症状和体征，并考虑其与姑息治疗服务利用的关联（主要结局）。使用SPSS 28.0版进行统计分析。
共识别出172例有症状的朊病毒病患者（症状出现时的中位年龄为65.4岁，范围20.2 - 85.4岁；50.6%为女性）。165例（94.8%）患者出现了≥1种适合支持性护理的症状或体征。113例（65.7%）患者获得了姑息治疗资源，包括临终关怀（61.1%）、姑息治疗咨询（12.4%）或两者兼有（26.5%）。行为改变（优势比[OR] 2.70，95%置信区间1.15，6.32）和便秘（OR 4.92，95%置信区间1.02，23.60）与转诊至姑息治疗服务独立相关。急诊科就诊（OR 2.29，95%置信区间1.04，5.03）和住院（OR 4.32，95%置信区间2.21，8.47）也与转诊相关。临终关怀和住院姑息治疗服务的获取比门诊咨询更及时（中位时间1.0天，范围0 - 133.0天）（门诊咨询中位时间19.0天，范围6.0 - 64.0天；P < 0.001）。
尽管朊病毒病具有终末期性质，且几乎普遍存在适合支持性护理的症状和体征，但仍有超过三分之一的朊病毒病患者未获得专科姑息治疗资源。这些发现凸显了一个机会，即通过明确护理目标和推进朊病毒病患者的护理计划，促进早期获得支持症状管理并增强患者自主权的姑息治疗资源。
