Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case–control cohort study
Although ERT improved fibrosis-related parameters, GD patients demonstrated higher liver and spleen stiffness. Elevated ferritin levels, longer disease duration, and delayed initiation of ERT were associated with liver fibrosis. Additionally, increased metabolic syndrome prevalence post-ERT may contribute to the development of hepatic steatosis in this patient population.
Authors
- Kadir Demir (ORCID: https://orcid.org/0000-0001-9568-9450)
- Ayşe Kubat Üzüm (ORCID: https://orcid.org/0000-0003-0478-1193)
- Refik Tanakol (ORCID: https://orcid.org/0000-0003-1636-1444)
- Ümmü Mutlu (ORCID: https://orcid.org/0000-0002-5259-7326)
- Özlem Soyluk Selçukbiricik (ORCID: https://orcid.org/0000-0003-0732-4764)
- Gülşah Yenidünya Yalin
- Nurdan Gul
- Bilger Cavus
- Hulya Hacisahinogullari
Institutions
- Istanbul University (TR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2026-01-08
- DOI
- https://doi.org/10.1186/s13023-025-03847-5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00