Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease

Acta Paediatrica Japonica; Overseas Edition
A Tylki-SzymańskaE Czarnowska

Abstract

Lysosomal acid lipase (LAL) deficiency leads to two phenotypically different diseases: cholesteryl ester storage disease (CESD) and Wolman's disease. Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides. Deficiency of LAL results in intralysosomal storage of cholesteryl esters and triglycerides. CESD has a chronic and benign course and is characterized by hepatomegaly and mild hypercholesterolemia. It leads to fibrosis (cirrhosis) and early atherosclerosis. This report presents the clinical, biochemical and microscopic data of seven patients with CESD followed up over 10 years. The physical development of all the study children remained within the normal range; 7 patients had hepatomegaly and 6 also had splenomegaly. Three patients had normal cholesterol, triglycerides and transaminases values; the other four had slightly elevated levels for these parameters. The activity of LAL in all patients was reduced to below 30% of the lower normal value. Histologically, cholesteryl crystals and lipid storage vacuoles in Kupffer cells were present in all examined patients except one. Accumulation of cholesteryl esters was visible on thin-layer chromatography of lipid extracts obtained from liver biopsies.

References

Jan 1, 1991·Journal of Inherited Metabolic Disease·M Odievre
Apr 1, 1991·Journal of Pediatric Gastroenterology and Nutrition·G D FerryA Glombicki
May 1, 1990·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·A M Di BisceglieJ M Hoeg
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Citations

Jul 17, 2012·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·Sa MuntoniG Assmann
Apr 4, 2007·Liver International : Official Journal of the International Association for the Study of the Liver·Long-Sheng LuMing-Jai Su
Jun 30, 2018·Journal of Pediatric Gastroenterology and Nutrition·Patryk LipińskiAnna Tylki-Szymańska
Mar 4, 2008·Clinical Chemistry·Amit R RahalkarAndre Mattman
Feb 14, 2013·Journal of Pediatric Gastroenterology and Nutrition·Bingnan Zhang, Anthony F Porto
May 9, 2021·Jornal de pediatria·Camila da Rosa WiteckMaria Marlene de Souza Pires

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