Glycogen storage disease type Ib (GSD Ib) is a rare disorder of glycogen metabolism, often complicated by neutropenia/neutrophil dysfunction, leading to recurrent infections and the development of inflammatory bowel disease (IBD), which severely impacts patients’ quality of life. Empagliflozin, an SGLT2 inhibitor, has demonstrated the ability to restore neutrophil counts and function, thereby improving the immunodeficiency state in GSD Ib patients. This consensus aims to provide clinical practice recommendations for the use of empagliflozin in GSD Ib based on current evidence and expert experience. The purpose of this document is to outline these key points and offer guidance for the clinical application of empagliflozin in GSD Ib.
Glycogen storage-related cardiomyopathy refers to a group of rare hereditary disorders caused by genetic defects, characterized by aberrant glycogen accumulation in the myocardium. It includes glycogen storage diseases that can affect the myocardium, PRKAG2 cardiac syndrome, and Danon disease. Cardiac manifestations are predominantly characterized by a hypertrophic cardiomyopathy phenotype. The diagnostic workflow is initiated with cues from distinctive clinical presentations and family history, while genetic testing serves as the core diagnostic modality. Most of these conditions are managed with empirical symptomatic therapies. Currently, adeno-associated virus based gene therapy agents have entered clinical trials, with preliminary findings demonstrating favorable safety and efficacy profiles, thus holding promise as disease-specific therapeutic strategies. This article elaborates on the recent progress in the diagnosis and management of glycogen storage-related cardiomyopathy, along with the challenges confronted in this field, aiming to provide a reference for the clinical practice of such diseases.