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

Abstract

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).