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

Abstract

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

Keywords: eHealth; emergency treatment; fatty acid oxidation disorders; glycogen storage diseases; hypoglycemia; telemedicine.

FIGURE 1

“Emergency protocol for children at risk for acute metabolic decompensation” template. Variables depending on patients' body weight are shown in blue; variables depending on the specific IEM are shown in green

FIGURE 2

Blood glucose concentrations at hospital admission. A, Initial glucose concentrations at hospital admission per IEM (n = 81). The boxes represent the 25th to 75th percentiles, the whiskers represent the range. B, Characteristics of hypoglycemic glucose concentrations at hospital admission (n = 19). Dashed lines represent the cutoff values for hypoglycemia at 2.6 mmol/L (22) and 3.9 mmol/L (19), respectively. *; data point represents two patients with a glucose concentration of 1.8 mmol/L at the age of 4 years with GSD types Ia and Ib