Biomolecules
Biochemical Endocrine and Skeletal Findings in Adults with Fabry Disease: A Descriptive Single-Center Study
By Sadettin S. Ozturk and İlkcan Çerçi Koçar.
Abstract
Background
Endocrine and skeletal findings have previously been reported in Fabry disease (FD), but their interpretation alongside Fabry-specific biochemical markers and multiorgan disease burden remains uncertain. This study descriptively characterized biochemical endocrine findings, vitamin D status, and age-appropriate DXA measurements in adults with FD receiving enzyme replacement therapy (ERT).
Methods
This retrospective, single-center study screened 29 patients evaluated between January 2020 and December 2025, of whom 21 adults with genetically and/or enzymatically confirmed FD were included. Biochemical thyroid findings and HbA1c-defined dysglycemia were summarized separately as descriptive measures; no prespecified primary endpoint, composite endocrine outcome, or confirmatory outcome hierarchy was defined. A post hoc exploratory comparison was performed between patients with HbA1c-defined dysglycemia (HbA1c ≥ 5.7%; n = 7) and those without HbA1c-defined dysglycemia (HbA1c < 5.7%; n = 14). Vitamin D status and DXA findings were evaluated using age-, sex-, and menopausal-status-appropriate criteria. Exploratory analyses incorporated effect sizes, bootstrap confidence intervals, permutation tests, and Benjamini–Hochberg correction.
