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Digestive Diseases and Sciences

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01.01.2009 | Case Report

Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult

verfasst von: Hemant Chatrath, Steven Keilin, Bashar M. Attar

Erschienen in: Digestive Diseases and Sciences | Ausgabe 1/2009

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Excerpt

Cholesterol ester storage disease (CESD) is a rare, autosomal-recessive, lysosomal storage disorder. It is characterized by deficiency of lysosomal acid lipase (LAL) enzyme, which is responsible for intracellular hydrolysis of triaclyglycerols and cholesteryl esters. The deficiency state of LAL can be expressed in two major phenotypic variants: Wolman's disease, which is the severe infantile form, uniformly fatal within 1–2 years of life, and the more benign CESD, which is associated with some residual LAL activity [1‐4]. Patients with CESD often present in the first or second decade of life with hepatosplenomegaly and elevated cholesterol levels. Hepatomegaly caused by hepatic steatosis and fibrosis can lead to micro-nodular cirrhosis. Hypercholesterolemia as a result of upregulation of hepatic very low density lipoprotein B-100 synthesis [5] and low plasma levels of high density lipoproteins (HDL) [6] may lead to premature atherosclerosis and vascular complications. …

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Titel: Cholesterol Ester Storage Disease (CESD) Diagnosed in an Asymptomatic Adult
verfasst von: Hemant Chatrath
Steven Keilin
Bashar M. Attar
Publikationsdatum: 01.01.2009
Verlag: Springer US
Erschienen in: Digestive Diseases and Sciences / Ausgabe 1/2009
Print ISSN: 0163-2116
Elektronische ISSN: 1573-2568
DOI: https://doi.org/10.1007/s10620-008-0310-2

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