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Cholesteryl Ester Storage Disease: Protean Presentations of Lysosomal Acid Lipase Deficiency

Zhang, Bingnan; Porto, Anthony F.

Journal of Pediatric Gastroenterology and Nutrition: June 2013 - Volume 56 - Issue 6 - p 682–685
doi: 10.1097/MPG.0b013e31828b36ac
Original Articles: Hepatology and Nutrition

Objective: LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptoms may present in infancy if there is complete loss of lysosomal acid lipase or in early childhood or adulthood when there is partial loss. The purpose of the present study is to review the literature for pediatric cases of CESD to better understand the phenotype of CESD.

Methods: A PubMed search of all English-language publications from 1966 through June 2012 for pediatric CESD case reports using the following key words CESD, fatty liver, and NAFLD was performed. All of the cases were reviewed and information regarding age, sex, presenting symptoms, and pertinent laboratory tests were recorded.

Results: Seventy-one cases were culled from 39 published case reports. Nearly two-thirds of these patients presented with their first symptoms when they were younger than 5 years. Hepatomegaly and splenomegaly were common features. Serum transaminases and lipids were often elevated. Gastrointestinal symptoms were noted in approximately one-third of cases. Two-thirds of patients had liver fibrosis.

Conclusions: CESD has an estimated incidence as high as 1 in 40,000, which means that it is presently underdiagnosed. Education about common symptoms of CESD as well as a higher level of suspicion for screening for CESD will lead to earlier diagnosis. New treatments for CESD including possible enzyme replacement therapy make early diagnosis especially important.

Yale University School of Medicine, New Haven, CT.

Address correspondence and reprint requests to Anthony F. Porto, Department of Pediatrics, Section of Gastroenterology and Hepatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510 (e-mail:

Received 5 July, 2012

Accepted 1 February, 2013

The authors report no conflicts of interest.

Copyright 2013 by ESPGHAN and NASPGHAN