Copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature
Elias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, Emilie Dahl, Ole Hamberg, Line Borgwardt, Vibeke Brix Christensen, Nicolai J Wewer Albrechtsen, Lise L Gluud
Elias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, Lise L Gluud, Gastrounit, Copenhagen University Hospital Hvidovre, Hvidovre 2650, Denmark
Emilie Dahl, Ole Hamberg, Department of Hepatology, Rigshospitalet, Copenhagen University, Copenhagen 2100, Denmark
Line Borgwardt, Centre of Genomic Medicine, Rigshospitalet, Copenhagen University, Copenhagen 2100, Denmark
Vibeke Brix Christensen, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University, Copenhagen 2100, Denmark
Nicolai J Wewer Albrechtsen, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark
Nicolai J Wewer Albrechtsen, Department for Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen 2200, Denmark
Author contributions: All authors contributed to the design of the study; Rashu EB, Borgwardt L and Gluud L undertook the literature review; Rashu EB, Junker AE and Borgwardt L undertook the clinical and biochemical assessments and analyses; Rashu EB and Gluud L drafted the paper; all authors contributed to the interpretation of data and revision of the paper and all have approved the final version.
Informed consent statement: Informed written consent was obtained from the patients for their inclusion in this report, including any accompanying images.
Conflict-of-interest statement: This study has received financial support for research from Alexion in the form of an unrestricted grant.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Lise L Gluud, DSc, MD, Chief Doctor, Professor, Gastrounit, Copenhagen University Hospital Hvidovre, Kettegaard Alle 30, Hvidovre 2650, Denmark.
lise.lotte.gluud.01@regionh.dk
Received: January 15, 2020
Peer-review started: January 15, 2020
First decision: February 29, 2020
Revised: March 26, 2020
Accepted: April 17, 2020
Article in press: April 17, 2020
Published online: May 6, 2020
Processing time: 106 Days and 4.8 Hours
BACKGROUND
Cholesteryl ester storage disease (CESD) is a rare genetic disease. Its symptoms and severity are highly variable. CESD is a systemic disease that can lead to the accumulation of fat and inflammation in the liver, as well as gastrointestinal and cardiovascular disease. The majority of patients require liver transplantation due to decompensated cirrhosis. Enzyme replacement therapy has been approved based on a randomized trial. Our study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation, as well as their first-degree family members.
CASE SUMMARY
The siblings were compound heterozygous for the missense variant in LIPA exon 8, c.894G>A, (p.Gln298Gln) and a single base pair deletion, c.482del (p.Asn161Ilefs*19). Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients. Clinically, both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD. Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value. One of these carriers, a seven-year-old boy, was found to have severe dyslipidemia and was subsequently treated with statins.
CONCLUSION
Our study underlines that CESD is a multi-organ disease, the progression of which may occur post-liver transplantation. Our findings underline the need for monitoring of complications and assessment of possible further treatment.
Core tip: Cholesteryl ester storage disease is a multisystemic disease affecting several organs. Accordingly, the disease will progress after liver transplantation and may recur in the transplanted liver. Abnormal lipid accumulation in the vascular endothelium causes cardiovascular diseases. The occurrence of single nucleotide polymorphisms associated with fatty liver disease may increase the risk of cirrhosis and of recurrence of fatty liver disease after transplantation. Our case presents findings that underline the importance of monitoring and treatment.
