Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease
Year: 2025
Type: article
Study design: Case Report
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.
Source: ACG Case Reports Journal
Institution: University of Southern California
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4417153122