TY - JOUR
T1 - A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance
T2 - A retrospective, single-center study and the generation of www.emergencyprotocol.net
AU - CONNECT MetabERN collaboration group
AU - Rossi, Alessandro
AU - Hoogeveen, Irene J
AU - Lubout, Charlotte M A
AU - de Boer, Foekje
AU - Fokkert-Wilts, Marieke J
AU - Rodenburg, Iris L
AU - van Dam, Esther
AU - Grünert, Sarah C
AU - Martinelli, Diego
AU - Scarpa, Maurizio
AU - Dekker, Hanka
AU - Te Boekhorst, Sebastiaan T
AU - van Spronsen, Francjan J
AU - Derks, Terry G J
N1 - This article is protected by copyright. All rights reserved.
PY - 2021/9
Y1 - 2021/9
N2 - 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.
AB - 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.
KW - eHealth
KW - emergency treatment
KW - fatty acid oxidation disorders
KW - glycogen storage diseases
KW - hypoglycemia
KW - telemedicine
U2 - 10.1002/jimd.12386
DO - 10.1002/jimd.12386
M3 - Article
C2 - 33844307
SN - 0141-8955
VL - 44
SP - 1124
EP - 1135
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -