Cholesteryl Ester Storage Disease

Carla E. M. Hollak

in Inherited Metabolic Disease in Adults

Published on behalf of Oxford University Press

Published in print July 2016 | ISBN: 9780199972135
Published online September 2016 | e-ISBN: 9780190463083 | DOI:

Series: Oxford Monographs on Medical Genetics

Cholesteryl Ester Storage Disease

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Cholesteryl ester storage disease is a very rare lysosomal storage disorder that may present in an attenuated form in adult patients. This clinical phenotype is clearly distinguished from the aggressive form of cholesteryl ester storage disease known as Wolman disease with rapidly progressive, often fatal disease within the first year of life. Most patients with an attenuated form present with “fatty liver” due to the accumulation of cholesterol esters and triglycerides. Most have splenomegaly as well. Enzyme replacement therapy has been recently developed. The natural course of very mild cases and the risk of developing liver failure are currently unknown.

Chapter.  2717 words.  Illustrated.

Subjects: Clinical Genetics

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