Ultrastructural and biochemical analyses were made of liver biopsy material from a patient with longstanding Fabry's disease. Both hepatocytes as well as periportal macrophages showed lipid accumulations consisting of amorphous material as well as stacks of lamellar leaflets. Lipid inclusions in periportal macrophages were much larger than in hepatocytes. Furthermore, small round spheres were found exclusively in periportal macrophages. The biochemical analysis showed an increased content of ceramide -3, with only minor elevated concentrations of other glycosphingolipids. The almost normal hepatic architecture and the presence of well-preserved hepatocytic organelles are in agreement with the observation that liver involvement in Fabry's disease has only minor clinical significance.
Fabry's disease is characterized by a deficiency of the lysosomal enzyme a-galactosidase [also known as ceramide -3t (ceramide trihexoside)] and other glycosphingolipids containing a terminal a-galactosidic linkage [for a review see (l)].
In the absence of a-galactosidase, ceramide -3 accumulates. Storage in the kidney, heart, spleen, and central nervous system has been well documented (1). By contrast, data regarding accumulation of glycosphingolipids in liver are rather rare, probably because liver function in Fabry's disease is either normal or only mildly impaired; prognosis of life is determined by damage to other organs, in particular kidneys and heart. In this paper, we describe ultrastructural changes in the liver of a patient with Fabry's disease. In addition, biochemical analysis