Smoldering Multiple Myeloma in Glycogen Storage Disease Type Ib: Diagnostic Challenges e Short-Term Follow-Up with Empagliflozin
Abstract
Abstract In addition to the typical metabolic abnormalities, glycogen storage disease type Ib (GSD Ib) is characterized by congenital neutropenia, multifactorial anemia, and chronic inflammatory bowel disease. The management of neutropenia relies on granulocyte colony-stimulating factor (G-CSF), which has received attention because of its potential association with hematologic malignancies. We report the first case of smoldering multiple myeloma (SMM) in a 43-year-old patient with GSD Ib receiving long-term G-CSF therapy. The chronic and multifactorial nature of the anemia made it difficult to attribute this finding to plasma cell dyscrasia. Since anemia represented the only potential myeloma-defining event and could not be clearly linked to the monoclonal disorder, a diagnosis of SMM was established. This case expands the spectrum of hematologic complications associated with GSD Ib and highlights the need for careful longitudinal surveillance in adult patients, particularly in the context of prolonged G-CSF exposure.
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