Gaucher disease is the most prevalent lysosomal storage disorder. Although it is traditionally associated with hepatosplenomegaly, hematologic abnormalities, and skeletal involvement, hepatic involvement remains an underrecognized aspect of its clinical presentation. Liver pathology in Gaucher disease can progress to fibrosis, cirrhosis, and portal hypertension.

OBJECTIVE

To summarize current research data on liver involvement in pediatric Gaucher disease, including morphological, biochemical, and functional hepatic changes, their association with disease type, the impact of enzyme replacement therapy (ERT) on the hepatobiliary system, and to present a clinical profile of the patient based on personal clinical experience.

KEY POINTS

Liver involvement in Gaucher disease presents across a broad spectrum — from mild hepatomegaly to severe complications such as cirrhosis, portal hypertension, and hepatocellular carcinoma. Special attention should be paid to the presence of Gaucheromas — focal accumulations of Gaucher cells — which may mimic malignant tumors. Elastography, MRI, and biochemical markers do not always correlate with the degree of fibrosis. Enzyme replacement therapy significantly reduces visceral manifestations but may not fully prevent the progression of liver fibrosis, particularly in splenectomized patients. Of special interest is the neonatal cholestasis phenotype observed in type 2 Gaucher disease.

CONCLUSION

The liver is one of the major target organs in Gaucher disease. Hepatic involvement may be the first manifestation of the disorder and requires careful differential diagnosis from other chronic hepatopathies. Early initiation of enzyme replacement therapy stabilizes hepatic symptoms and improves prognosis. Management strategies should include regular liver monitoring regardless of disease stage or the presence of other complications.