Stepien Karolina M, Kieć-Wilk Beata, Lampe Christina, Tangeraas Trine, Cefalo Graziella, Belmatoug Nadia, Francisco Rita, Del Toro Mireia, Wagner Leona, Lauridsen Anne-Grethe, Sestini Sylvia, Weinhold Nathalie, Hahn Andreas, Montanari Chiara, Rovelli Valentina, Bellettato Cinzia M, Paneghetti Laura, van Lingen Corine, Scarpa Maurizio
Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
Department of Metabolic Diseases and Diabetes, Krakow University Hospital, Krakow, Poland.
Front Med (Lausanne). 2021 Feb 25;8:652358. doi: 10.3389/fmed.2021.652358. eCollection 2021.
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. This has created a new challenge: as they grow up, the care of IMD patients' needs to be transferred from metabolic pediatricians to metabolic physicians specialized in treating adults, through a process called "transition." The purpose of this study was to assess how this transition is managed in Europe: a survey was sent to all 77 centers of the European Reference Network for Hereditary Metabolic Disorders (MetabERN) to collect information and to identify unmet needs regarding the transition process. Data was collected from 63/77 (81%) healthcare providers (HCPs) from 20 EU countries. Responders were mostly metabolic pediatricians; of these, only 40% have received appropriate training in health issues of adolescent metabolic patients. In most centers (67%) there is no designated transition coordinator. About 50% of centers provide a written individualized transition protocol, which is standardized in just ~20% of cases. In 77% of centers, pediatricians share a medical summary, transition letter and emergency plan with the adult team and the patient. According to our responders, 11% of patients remain under pediatric care throughout their life. The main challenges identified by HCPs in managing transition are lack of time and shortage of adult metabolic physician positions, while the implementations that are most required for a successful transition include: medical staff dedicated to transition, a transition coordinator, and specific metabolic training for adult physicians. Our study shows that the transition process of IMD patients in Europe is far from standardized and in most cases is inadequate or non-existent. A transition coordinator to facilitate collaboration between the pediatric and adult healthcare teams should be central to any transition program. Standardized operating procedures, together with adequate financial resources and specific training for adult physicians focused on IMDs are the key aspects that must be improved in the rare metabolic field to establish successful transition processes in Europe.
遗传性代谢疾病（IMDs）是由生化途径中的基因缺陷引起的罕见疾病。在过去几十年中，早期诊断和治疗进展提高了IMD患者的预期寿命，现在大多数患者存活至20岁以上。这带来了一个新挑战：随着他们长大，IMD患者的护理需要通过一个称为“过渡”的过程，从代谢儿科医生转移到专门治疗成人的代谢内科医生手中。本研究的目的是评估欧洲如何管理这种过渡：向欧洲遗传性代谢疾病参考网络（MetabERN）的所有77个中心发送了一份调查问卷，以收集信息并确定过渡过程中未满足的需求。数据收集自来自20个欧盟国家的63/77（81%）医疗保健提供者（HCPs）。受访者大多是代谢儿科医生；其中，只有约40%的人接受过关于青少年代谢患者健康问题的适当培训。在大多数中心（约67%）没有指定的过渡协调员。约50%的中心提供书面的个性化过渡方案，其中只有约20%的情况是标准化的。在77%的中心，儿科医生会与成人团队和患者共享医疗总结、过渡信函和应急计划。根据我们的受访者，11%的患者一生都在儿科护理之下。HCPs在管理过渡过程中确定的主要挑战是时间不足和成人代谢内科医生职位短缺，而成功过渡最需要的实施措施包括：专门负责过渡的医务人员、过渡协调员以及针对成人医生的特定代谢培训。我们的研究表明，欧洲IMD患者的过渡过程远未标准化，在大多数情况下是不充分或不存在的。促进儿科和成人医疗团队之间合作的过渡协调员应是任何过渡计划的核心。标准化操作程序，以及充足的财政资源和针对专注于IMDs的成人医生的特定培训，是罕见代谢领域必须改进的关键方面，以便在欧洲建立成功的过渡过程。
