Gaucher’s Disease and Fatal Hepatic Fibrosis Despite Prolonged Enzyme Replacement Therapy

Abstract

We report on the case of a girl with type 1 Gaucher’s disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher’s disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.