Case report : the success of empagliflozin therapy for glycogen storage disease type 1b

Klinc, Ana (author), Grošelj, Urh (author), Mlinarič, Matej (author), Homan, Matjaž (author), Markelj, Gašper (author), Mezek Novak, Ajda (author), Širca-Čampa, Andreja (author), Šikonja, Jaka (author), Battelino, Tadej (author), Žerjav-Tanšek, Mojca (author), Drole Torkar, Ana (author)

Introduction: Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ameliorate neutropenia-related symptoms, including severe infections and inflammatory bowel disease (IBD). Our case series presents the treatment of three pediatric GSD-1b patients with empagliflozin over a follow-up of three years; the most extended reported follow-up period to date. Cases description: A retrospective analysis of empagliflozin treatment of three pediatric GSD-1b patients (two male and one female; ages at treatment initiation: 4.5, 2.5 and 6 years) was performed. Clinical and laboratory data from a symmetrical period of up to three years before and after the therapy introduction was reported. Data on the clinical course of the treatment, IBD activity, the need for antibiotic treatment and hospitalizations, neutrophil count and function, and markers of inflammation were assessed. Prior the introduction of empagliflozin, patients had recurrent oral mucosa lesions and infections, abdominal pain, and anemia. During empagliflozin treatment, the resolution of aphthous stomatitis, termination of abdominal pain, reduced frequency and severity of infections, anemia resolution, increased appetite, and improved wound healing was observed in all patients, as well as an increased body mass index in two of them. In a patient with IBD, long-term deep remission was confirmed. An increased and stabilized neutrophil count and an improved neutrophil function enabled the discontinuation of G-CSF treatment in all patients. A trend of decreasing inflammation markers was detected. Conclusions: During the three-year follow-up period, empagliflozin treatment significantly improved clinical symptoms and increased the neutrophil count and function, suggesting that targeted metabolic treatment could improve the immune function in GSD-1b patients.

• Language: English
• Keywords: glycogen storage disease type 1B, GSD-1b, empagliflozin, SGLT2 inhibitor, neutropenia, inflammatory bowel disease, case series
• Work type: Article
• Typology: 1.03 - Other scientific articles
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2024
• Number of pages: 8 str.
• Numbering: Vol. 15, art. 1365700
• PID: 20.500.12556/RUL-166825
• UDC: 61
• ISSN on article: 1664-2392
• DOI: 10.3389/fendo.2024.1365700
• COBISS.SI-ID: 203198979
• Publication date in RUL: 27.01.2025

Record is a part of a journal

• Title: Frontiers in endocrinology
• Publisher: Frontiers Research Foundation
• ISSN: 1664-2392
• COBISS.SI-ID: 3340154

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0343
• Name: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih