Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken

Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG.尽管单种罕见病的患病率普遍较低，但整体疾病负担仍十分沉重。罕见病患者常遭遇诸多困境，包括诊断延迟以及难以获取高质量治疗手段。为应对这些挑战，欧盟委员会（European Commission）发起了欧洲参考网络（European Reference Networks, ERNs），这是由医疗服务提供者与患者代表组成的跨境协作网络。与此同时，这些欧洲参考网络的宗旨与架构在联邦及区域层面得到本土化适配，最终催生了佛兰德斯罕见病网络（Flemish Network of Rare Diseases）。为契合欧洲参考网络的使命并保障患者获得均等医疗服务，我们首次针对系统性硬化症（systemic sclerosis, SSc）制定了患者诊疗路径，将其作为其他罕见结缔组织与肌肉骨骼疾病的试点范本。与会专家就以下核心要点达成共识：1. 系统性硬化症患者应在基线阶段于三级参考专家中心接受多学科临床与评估检查，并在此后每3至5年复查一次；在此间隔周期内，需每年在参考中心完成临床评估，而系统性硬化症相关的专业技术检查可在符合该疾病专属临床实践指南的医疗机构开展。在两次三级中心复查的间隔期内，患者的病情监测可在二级医疗机构进行，但前提是该机构能够提供包括交互式多学科会诊在内的规范化检查与诊疗服务。2. 早期弥漫性皮肤型系统性硬化症、（进展性）间质性肺病及/或肺动脉高压患者，应定期在专科三级医疗参考机构接受评估。3. 进展性间质性肺病及/或（动脉性）肺动脉高压患者的病情监测，将与欧洲参考网络肺脏专病组（ERN LUNG）的专家协同开展。