Cholesteryl Ester Storage Disease: An underdiagnosed cause of cirrhosis in adults

Abstract Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and w...

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Bibliographic Details
Published in:Annals of diagnostic pathology 2017-12, Vol.31, p.66-70
Main Authors: Pant, Mamata, Oshima, Kiyoko
Format: Article
Language:English
Subjects:
Adult
Child
Cholesterol Ester Storage Disease - complications
Female
Humans
Liver Cirrhosis - etiology
Male
Pathology
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Summary:Abstract Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as nonalcoholic fatty liver disease/nonalcoholic steatohepatitis or cryptogenic cirrhosis. Given the recent availability of safe and effective enzyme replacement therapy that can alter the natural course of CESD, the pathologists signing out adult and pediatric liver biopsies should be aware of this entity, thus contributing to timely patient management. This review discusses the clinical features, pathogenesis, diagnostic approach, differential diagnosis and management of CESD in adults.
ISSN:1092-9134
1532-8198
DOI:10.1016/j.anndiagpath.2017.02.005