Ultrastructural and biochemical liver analyses in Fabry's disease.

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.