Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
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Abstract

Objectives

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.

Methods

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.

Results and conclusion

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.

标准化急救协议,改善对疑似或确诊遗传性代谢紊乱(IMDs)患者的管理:法国IMDs罕见病医疗网络的一项倡议
目的患有遗传性代谢紊乱(IMD)的患者可能需要在医院接受急诊治疗,以防止出现代谢失调等危及生命的情况。迄今为止,已发现一千多种不同的罕见遗传性代谢紊乱病,这意味着启动紧急治疗的医疗保健专业人员(HCP)可能并不熟悉这些病症。我们概述了法国罕见疾病 IMDs 医疗保健网络(简称 G2M)的一个多学科工作组是如何创建简明而标准化的协议(每个协议由一张双面 A4 纸组成)的,该协议侧重于一种特定疾病、一组疾病或一种特定症状。在验证之前,法国所有的 IMD 参考资料和能力中心,以及必要时其他专业的医学专家、急诊室和重症监护室的医生以及患者协会的代表都对这些协议进行了审查。所有急救协议的法文版和英文版均可在 https://www.filiere-g2m.fr/urgences 免费获取。这些标准化规程旨在加强对患者的紧急救治,避免延误,同时还能增强医护人员的信心,提高他们的工作效率,最大限度地降低在实施特殊治疗时出现剂量错误的风险,节省时间,并减少夜间值班的代谢医学专家的电话次数。该协议计划每年进行一次审查,以便根据主治医生和患者的反馈意见进一步改进,并适应管理实践中的任何变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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