Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage

Anneloes E Bohte, Laura van Dussen, Erik M Akkerman, Aart J Nederveen, Ralph Sinkus, Peter L M Jansen, Jaap Stoker, Carla E M Hollak

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)


Long term liver-related complications of type-1 Gaucher disease (GD), a lysosomal storage disorder, include fibrosis and an increased incidence of hepatocellular carcinoma. Splenectomy has been implicated as a risk factor for the development of liver pathology in GD. High ferritin concentrations are a feature of GD and iron storage in Gaucher cells has been described, but iron storage in the liver in relation to liver fibrosis has not been studied. Alternatively, iron storage in GD may be the result of iron supplementation therapy or regular blood transfusions in patients with severe cytopenia. In this pilot study, comprising 14 type-1 GD patients (7 splenectomized, 7 non-splenectomized) and 7 healthy controls, we demonstrate that liver stiffness values, measured by Transient Elastography and MR-Elastography, are significantly higher in splenectomized GD patients when compared with non-splenectomized GD patients (p = 0.03 and p = 0.01, respectively). Liver iron concentration was elevated (>60±30 µmol/g) in 4 GD patients of whom 3 were splenectomized. No relationship was found between liver stiffness and liver iron concentration. HFE gene mutations were more frequent in splenectomized (6/7) than in non-splenectomized (2/7) participants (p = 0.10). Liver disease appeared more advanced in splenectomized than in non-splenectomized patients. We hypothesize a relationship with excessive hepatic iron accumulation in splenectomized patients. We recommend that all splenectomized patients, especially those with evidence of substantial liver fibrosis undergo regular screening for HCC, according to current guidelines.
Original languageEnglish
Pages (from-to)e57507
JournalPLoS ONE
Issue number3
Publication statusPublished - 15 Mar 2013


  • Adult
  • Aged
  • Carcinoma, Hepatocellular
  • Elasticity Imaging Techniques
  • Female
  • Gaucher Disease
  • Humans
  • Incidence
  • Iron
  • Liver Cirrhosis
  • Liver Neoplasms
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Splenectomy


Dive into the research topics of 'Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage'. Together they form a unique fingerprint.

Cite this