Domains of the AMY-NEEDS phase II questionnaire.

BackgroundAmyloidosis is a rare multi-system disorder associated with frequently delayed diagnosis, enormous disease burden and psychosocial distress.MethodsSystematic assessment of needs was performed by a subtype-spanning questionnaire-based survey within the AMY-NEEDS research and care program.Results118 patients with proven amyloidosis (62.7% ATTR, 22.0% AL, 15.3% other forms) were included in August 2020 until February 2021 (mean age 71.2 ±11.3 years; 30% women). The median diagnostic delay between onset of symptoms and diagnosis was 9.0 (range: 2.5; 33.0) months. Local health care providers (HCPs) play a central role on the way to diagnosis. Diagnosis itself typically requires a clinical but not necessarily a university setting. In the treatment phase, the focus moves to the amyloidosis centre as primary contact and coordinator, with general practitioners (GPs) acting predominantly as a contact point in crisis and link to additional services. About half of patients reported impaired quality of life and one third suffering from anxiety and depressed mood, respectively. The majority of patients talk about their concerns with close caregivers and local HCPs. Advance care planning is a relevant, yet insufficiently met need.ConclusionThe journey of patients with amyloidotic disease, their contact partners and needs at different stages were characterized in detail within the German health care system. An amyloidosis-specific care concept has to master the multitude of interfaces connecting the numerous treatment providers involved with the amyloidosis centre and GPs as key players. Telemedical approaches could be a promising and well-accepted option allowing optimal coordination and communication.背景：淀粉样变性（Amyloidosis）是一种罕见的多系统疾病，常伴随诊断延迟频发、疾病负担沉重及心理社会痛苦等问题。 方法：本研究依托AMY-NEEDS研究与照护项目，采用覆盖所有亚型的问卷式调查，系统性评估患者需求。 结果：2020年8月至2021年2月期间，共纳入118例确诊淀粉样变性患者（其中ATTR型占62.7%、AL型占22.0%，其余15.3%为其他亚型）；患者平均年龄为71.2±11.3岁，女性占比30%。从症状发作至确诊的中位诊断延迟时间为9.0个月（范围：2.5~33.0个月）。当地医疗服务提供者（Health Care Providers, HCPs）在确诊路径中发挥核心作用。确诊环节通常仅需临床场景，未必依赖大学附属医疗机构。进入治疗阶段后，核心接触方与协调者转为淀粉样变性专病中心，全科医生（General Practitioners, GPs）则主要承担危机联络与对接额外医疗服务的角色。约半数患者报告生活质量受损，约三分之一患者分别存在焦虑与抑郁情绪。多数患者会向亲密照护者及当地医疗服务提供者倾诉自身困扰。预立医疗照护计划（Advance care planning）是一项重要但尚未得到充分满足的需求。 结论：本研究详细刻画了德国医疗体系内淀粉样变性患者的诊疗路径、接触伙伴及不同阶段的需求。淀粉样变性专病照护模式需妥善处理多方衔接的复杂界面：连接参与诊疗的各类医疗服务提供者、淀粉样变性专病中心与作为核心参与者的全科医生。远程医疗方案（Telemedical approaches）有望成为兼具可行性与高接受度的选择，可优化诊疗协调与沟通效率。