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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

  • 0Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Istanbul University, Turgut Ozal Street, Capa, Sehremini Fatih, Istanbul, Türkiye. ukorkmaz18@gmail.com.
Orphanet Journal of Rare Diseases +

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January 8, 2026

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January 8, 2026

View abstract on PubMed

Summary

This summary is machine-generated.

Enzyme replacement therapy (ERT) for Gaucher disease (GD) improved some fibrosis markers but left patients with higher liver and spleen stiffness. Delayed ERT initiation and elevated ferritin correlated with liver fibrosis.

Area Of Science

  • Hepatology
  • Gastroenterology
  • Lysosomal Storage Disorders

Background

  • Gaucher disease (GD) involves glucosylceramide accumulation, potentially causing liver fibrosis and cirrhosis.
  • Enzyme replacement therapy (ERT) is a potential treatment to reverse fibrosis in GD patients.
  • This study investigates liver and spleen stiffness and hepatic steatosis in adult type 1 GD patients undergoing ERT.

Purpose Of The Study

  • To assess liver and spleen stiffness in adult type 1 Gaucher disease patients receiving ERT.
  • To evaluate hepatic steatosis using transient elastography (TE) in GD patients on ERT.
  • To compare TE findings in GD patients with a control group.

Main Methods

  • Twenty-five type 1 GD patients were assessed pre- and post-ERT using transient elastography (TE) and Controlled Attenuation Parameter (CAP).
  • Liver fibrosis was defined as kPa ≥7; significant steatosis as CAP ≥250 dB/min.
  • TE findings were correlated with clinical, metabolic, genetic factors, FIB4, and APRI scores.

Main Results

  • Post-ERT, GD patients showed increased body weight, BMI, and metabolic syndrome (MetS) prevalence (12% to 40%).
  • Hepatic steatosis was more frequent (32% vs. 16% in controls), and 44% of GD patients had liver fibrosis, compared to none in controls.
  • GD patients had significantly higher liver (6.6 vs. 3.7 kPa) and spleen stiffness (17.6 vs. 11.1).

Conclusions

  • ERT improved some fibrosis markers, but GD patients still exhibited elevated liver and spleen stiffness.
  • Liver fibrosis was associated with higher ferritin levels, longer disease duration, and delayed ERT initiation.
  • Increased MetS prevalence post-ERT may contribute to hepatic steatosis development in GD patients.

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