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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. Nov 26, 2025; 17(11): 111292
Published online Nov 26, 2025. doi: 10.4330/wjc.v17.i11.111292
Published online Nov 26, 2025. doi: 10.4330/wjc.v17.i11.111292
Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease
Paolo Fornengo, Arianna Ferro, Elisa Rinaudo, Marilena Durazzo, Department of Medical Sciences, University of Turin, Turin 10126, Piedmont, Italy
Sharmila Fagoonee, Institute for Biostructure and Bioimaging, National Research Council, Molecular Biotechnology Center “Guido Tarone”, Turin 10126, Piedmont, Italy
Cristina Amione, Servizio di - Diabetologia e Malattie Metaboliche, Ospedale degli Infermi, Biella 13875, Piedmont, Italy
Co-first authors: Paolo Fornengo and Arianna Ferro.
Author contributions: Fornengo P and Ferro A designed and performed the majority of the writing, they contributed equally to this manuscript and are co-first authors; Fagoonee S partially drafted original manuscript and made critical and language revisions; Rinaudo E and Amione C conducted the literature review and prepared the figures; Durazzo M conceptualized and supervised the work; all authors approved the submitted version of the manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Marilena Durazzo, MD, Associate Professor, Department of Medical Sciences, University of Turin, Corso A.M. Dogliotti 14, Turin 10126, Piedmont, Italy.
Received: June 27, 2025
Revised: July 24, 2025
Accepted: October 17, 2025
Published online: November 26, 2025
Processing time: 147 Days and 15.8 Hours
Revised: July 24, 2025
Accepted: October 17, 2025
Published online: November 26, 2025
Processing time: 147 Days and 15.8 Hours
Core Tip
Core Tip: Lysosomal acid lipase deficiency is a rare disease caused by the mutation of the lysosomal acid lipase A gene and characterized by the lysosomal accumulation of cholesteryl esters and triglycerides in many tissues. Its late onset form, cholesteryl ester storage disease, is frequently misrecognized because of a mild and nonspecific presentation that resembles more common illnesses such as metabolically associated steatotic liver disease and dyslipidemia. This review summarizes the current knowledge on cholesteryl ester storage disease and aims to increase the awareness of the disease among clinicians.