A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

CONNECT MetabERN collaboration group, Alessandro Rossi, Irene J Hoogeveen, Charlotte M A Lubout, Foekje de Boer, Marieke J Fokkert-Wilts, Iris L Rodenburg, Esther van Dam, Sarah C Grünert, Diego Martinelli, Maurizio Scarpa, Hanka Dekker, Sebastiaan T Te Boekhorst, Francjan J van Spronsen, Terry G J Derks*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    16 Citations (Scopus)
    191 Downloads (Pure)

    Abstract

    INTRODUCTION: Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long-term data on outcomes using emergency letters are lacking.

    METHODS: This is a retrospective, observational, single-center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Data on hospital admissions, initial laboratory results and serious adverse events were collected. Subsequently, the website www.emergencyprotocol.net was generated in the context of the CONNECT MetabERN eHealth project following multiple meetings, protocol revisions and translations.

    RESULTS: Representing 470 emergency protocol years, 127 hospital admissions were documented in 54/128(42%) patients who made use of emergency letters generated based on the generic emergency protocol. Hypoglycemia (here defined as glucose concentration <3.9 mmol/l) was reported in only 15% of hospital admissions and was uncommon in patients with ketotic GSD and patients with FAOD aged > 5 years. Convulsions, coma or death were not documented. By providing basic information, emergency letters for individual patients with hepatic GSD or the main FAOD can be generated at www.emergencyprotocol.net, in 9 different languages.

    DISCUSSION: Generic emergency protocols are safe and easy for home management by the caregivers and the first hour in-hospital management to prevent metabolic emergencies in patients with hepatic GSD and medium-chain Acyl CoA dehydrogenase deficiency. The website www.emergencyprotocol.net is designed to support families and healthcare providers to generate personalized emergency letters for patients with hepatic GSD and the main FAOD. This article is protected by copyright. All rights reserved.

    Original languageEnglish
    Pages (from-to)1124-1135
    Number of pages12
    JournalJournal of Inherited Metabolic Disease
    Volume44
    Issue number5
    DOIs
    Publication statusPublished - Sept-2021

    Keywords

    • eHealth
    • emergency treatment
    • fatty acid oxidation disorders
    • glycogen storage diseases
    • hypoglycemia
    • telemedicine

    Fingerprint

    Dive into the research topics of 'A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net'. Together they form a unique fingerprint.

    Cite this