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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

Year: 2026

Type: article

Abstract: INTRODUCTION: Gaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. This study aimed to assess liver and spleen stiffness and hepatic steatosis in adult type 1 GD patients receiving ERT, using transient elastography (TE) (Fibroscan®). METHOD: Twenty-five type 1 GD patients were evaluated pre- and post-ERT. TE findings of GD patients on ERT were compared cross-sectionally with a control group. Liver fibrosis was defined as ≥7 kPa, and significant steatosis was defined as a Controlled Attenuation Parameter (CAP) measurement ≥ 250 dB/min. Associations between TE findings and clinical, metabolic, genetic characteristics, FIB4 (fibrosis 4) and APRI (AST to platelet ratio index) scores, were investigated. RESULTS: , p < 0.001), and metabolic syndrome (MetS) prevalence (12% vs. 40%, p = 0.016) were increased. Hepatic steatosis was more frequent (32% vs. 16%). Liver fibrosis was present in 44% of GD patients, but in none of the controls. GD patients exhibited significantly higher liver (6.6 vs. 3.7 kPa; p < 0.001) and spleen stiffness (17.6 vs. 11.1; p = 0.032). Liver fibrosis was positively correlated with ALT, GGT, ferritin levels, disease duration, and delayed initiation of ERT. CONCLUSION: 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.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/s13023-025-03847-5