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Ultrastructural and Biochemical Liver Analyses in Fabry's Disease
Author(s) -
Meuwissen Stephan G. M.,
Dingemans Kurt P.,
Strijland Anneke,
Tager Joseph M.,
Ooms Bert C. M.
Publication year - 2007
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.1840020214
Subject(s) - ultrastructure , fabry disease , fabry's disease , pathology , organelle , ceramide , liver disease , liver biopsy , biopsy , electron microscope , lipid metabolism , biology , chemistry , disease , medicine , biochemistry , apoptosis , physics , optics
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 glycosphin‐golipids. 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.