Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature

Gaucher disease is a rare inborn error of metabolism but represents the most common type of lysosomal storage disease, and it is highly prevalent in the Ashkenazi Jewish population. It is an autosomal recessive disorder caused by deficiency of glucocerebrosidase, which results in accumulation of glucosyl ceramide in the lysosomes of tissue macrophages. The resulting phenotype is complex, involving hepatosplenomegaly, marrow infiltration, and diverse patterns of skeletal and pulmonary disease. The majority of patients (99%) have non-neuronopathic disease (type 1), but the brain is involved in neuronopathic types 2 and 3 of the disease. The standard of care for type 1 Gaucher disease is enzyme supplemental therapy with macrophage-targeted, recombinant glucocerebrosidase (imiglucerase).

Several reports indicate development of a variety of neoplasms including malignancies, especially hematologic, in patients with type 1 Gaucher disease.[1] As with other inborn errors of metabolism affecting the liver that lead to an increased risk of hepatocellular carcinoma (HCC), there has been speculation that Gaucher disease may increase the risk of malignancies in organs that are involved in the accumulation of the storage cells. The liver is universally involved in type 1 Gaucher disease and there are reports of the development of cirrhosis and an unusual type of fibrosis necessitating liver transplantation, although the hepatocytes, per se, do not appear to be involved in the storage process.[2] [3] Interestingly, HCC has also been reported in two patients with type 1 Gaucher disease.[4] [5] Herein, we report a third case of HCC in type 1 Gaucher disease that was managed successfully with liver transplantation and continued enzyme replacement therapy.

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