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[Cholesterol ester storage disease and sea-blue histiocytes]
B Künnert1, K Pöhlandt, I Ruschke
1Institut für Pathologische Anatomie, Karl-Marx-Universität Leipzig, DDR.
Zentralblatt Fur Allgemeine Pathologie U. Pathologische Anatomie
|January 1, 1987
Summary
Cholesteryl ester storage disease (CESD) in a child presented with liver enlargement and abnormal lipids. Fibrosis and sea-blue histiocytes suggest a potential antioxidant deficiency.
Area of Science:
- Hepatology
- Lipid Metabolism
- Genetic Disorders
Background:
- Cholesteryl ester storage disease (CESD) is a rare inherited metabolic disorder.
- CESD is characterized by the accumulation of cholesteryl esters in various tissues, particularly the liver.
Observation:
- A 5-year-old boy diagnosed with CESD via liver biopsy exhibited hepatosplenomegaly, elevated transaminases, and type IIb hyperlipoproteinemia.
- Histological examination revealed foamy hepatocytes and Kupffer cells, with lipid staining positive for neutral lipids, unsaturated lipids, and cholesterol.
- Polarized light microscopy showed birefringent storage material, and histochemical analysis confirmed increased cholesteryl esters and triglycerides in liver tissue.
Findings:
- The second CESD case presented with more pronounced hepatic fibrosis compared to a previous case.
- Sea-blue histiocytes, containing ceroid, were observed within the fibrous tissue.
- Ceroid, a product of lipid peroxidation, suggests a potential role for oxidative stress in disease progression.
Implications:
- The presence of ceroid and fibrosis suggests a possible deficiency in tissue antioxidants at storage sites in CESD.
- This antioxidant deficiency may potentiate liver fibrosis in CESD patients.
- Further research into antioxidant therapies could be beneficial for managing CESD complications.