Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France.
Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; Centre de compétence des maladies héréditaires du métabolisme, Hôpital Universitaire de Strasbourg, Strasbourg, France.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14.
Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
We outline how a multidisciplinary working group from the French IMDs Healthcare Network for Rare Diseases, known as G2M, has created concise and standardized protocols _each consisting of a single double-sided A4 sheet _ focused on a specific disease, a group of diseases, or a particular symptom. Prior to validation, these protocols were reviewed by all French reference and competence centres for IMDs, as well as by medical experts from other specialities when necessary, physicians from emergency and intensive care units, and representatives from patient associations.
In total, 51 emergency protocols containing essential information have been developed and provided to affected patients. All the emergency protocols are freely available in both French and English at https://www.filiere-g2m.fr/urgences. These standardized protocols aim to enhance the emergency care of patients without delay, while also assisting HCPs by increasing their confidence and efficiency, minimizing the risk of dosage errors when administering specialized treatments, saving time, and reducing the number of phone calls to metabolic medicine specialists on night duty. The protocols are scheduled for annual review to facilitate further improvements based on feedback from HCPs and patients, as well as to accommodate any changes in management practices as they evolve.
患有遗传性代谢疾病 (IMD) 的患者可能需要紧急住院治疗，以防止出现代谢失代偿等危及生命的情况。迄今为止，已经发现了超过一千种不同的罕见 IMD，这意味着启动紧急治疗的医疗保健专业人员 (HCP) 可能不熟悉这些疾病。该倡议的目的是为 HCP 提供针对需要紧急护理的 IMD 儿童和成人的急性管理实用指南，无论潜在原因如何。
我们概述了法国罕见疾病 IMD 医疗保健网络 G2M 的一个多学科工作组如何创建简洁且标准化的协议——每个协议由一个单双面 A4 纸组成——专注于特定疾病、一组疾病或特定症状。在验证之前，这些协议已经由法国所有 IMD 参考和专业中心以及必要时来自其他专业的医学专家、急诊和重症监护病房的医生以及患者协会的代表进行了审查。
总共制定并向受影响的患者提供了 51 份包含重要信息的紧急协议。所有紧急协议都可以在 https://www.filiere-g2m.fr/urgences 上以法文和英文免费获得。这些标准化协议旨在毫不拖延地加强对患者的紧急护理，同时通过增强 HCP 的信心和效率、最大程度地减少专门治疗给药时的剂量错误风险、节省时间以及减少夜间值班代谢医学专家的电话次数来协助 HCP。这些协议计划每年进行审查，以便根据 HCP 和患者的反馈进行进一步改进，并适应管理实践的任何变化。
