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Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

World Journal of Clinical Cases 2020年第9期8卷 1642-1650页

作者： 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 Gastrounit Copenhagen University Hospital HvidovreHvidovre 2650Denmark Department of Hepatology RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Centre of Genomic Medicine RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Department of Paediatrics and Adolescent Medicine RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical SciencesUniversity of CopenhagenCopenhagen 2200Denmark Department for Clinical Biochemistry RigshospitaletUniversity of CopenhagenCopenhagen 2200Denmark

BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic *** symptoms and severity are highly *** is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular *** majority of patients require liver transplantation due to decompensated *** replacement therapy has been approved based on a randomized *** study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family *** SUMMARY The siblings were compound heterozygous for the missense variant in LIPA exon 8,c.894G>A,(***298Gln)and a single base pair deletion,c.482del(***161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both ***,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of *** family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference *** of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with *** Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver *** findings underline the need for monitoring of complications and assessment of possible further treatment.

关键词： Lysosomal acid lipase deficiency Lysosomal storage disease Non-alcoholicfatty liver disease Liver transplantation Sebelipase alfa Case report

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