Evidence map›Paper›PMID 41357559›Full record

ArticleACG case reports journal2025

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.

Ariel Lee, Taaj Raasikh, Saroja Bangaru, Shoji Yano, Shefali Chopra, Takeshi Saito

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in ACG case reports journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Ariel LeeDepartment of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA.
Taaj RaasikhDivision of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA.
Saroja BangaruDivision of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA.
Shoji YanoGenetics Division, Department of Pediatrics, Los Angeles General Medical Center, University of Southern California, Los Angeles, CA.
Shefali ChopraDepartment of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Takeshi SaitoDivision of Gastrointestinal and Liver Diseases, Department of Medicine, University of Southern California, Keck School of Medicine, Los Angeles, CA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cholesteryl ester storage disease is a rare genetic disorder caused by mutations in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to abnormal accumulation of cholesteryl esters and triglycerides within lysosomes. We describe a case of late-onset cholesteryl ester storage disease in a woman with elevated liver enzymes, histologic evidence of microvesicular steatosis and cirrhosis, with a confirmed LIPA mutation, who initiated enzyme replacement therapy with sebelipase alfa. This case highlights the importance of considering hereditary disorders of lipid metabolism in patients presenting unexpectedly with steatotic liver disease in the absence of significant metabolic risk factors.

Indexed as

cholesteryl ester storage diseaselysosomal acid lipase deficiencysebelipase alfa (Kanuma)steatotic (fatty) liver diseasesWolman disease

Identifiers

PMID41357559
PMCPMC12677883

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.