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

Mamta Pant, Kiyoko Oshima

Research output: Contribution to journalReview article


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 non-alcoholic fatty liver disease/non-alcoholic 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.

Original languageEnglish (US)
Pages (from-to)66-70
Number of pages5
JournalAnnals of Diagnostic Pathology
Publication statusPublished - Dec 1 2017
Externally publishedYes



  • Cholesteryl Ester Storage Disease
  • Cirrhosis
  • Lysosomal acid lipase deficiency
  • Lysosomal storage disease
  • Wolman disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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