Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
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TLDR
All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure.About:
This article is published in Journal of Hepatology.The article was published on 2013-06-01 and is currently open access. It has received 284 citations till now. The article focuses on the topics: Cholesterol ester storage disease & Lysosomal acid lipase deficiency.read more
Citations
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Journal ArticleDOI
Nonalcoholic fatty liver disease
Elizabeth M. Brunt,Vincent Wai-Sun Wong,Valerio Nobili,Christopher P. Day,Silvia Cristina Sookoian,Jacquelyn J. Maher,Elisabetta Bugianesi,Claude B. Sirlin,Brent A. Neuschwander-Tetri,Mary E. Rinella +9 more
TL;DR: No effective medical interventions exist that completely reverse the disease other than lifestyle changes, dietary alterations and, possibly, bariatric surgery, however, several strategies that target pathophysiological processes such as an oversupply of fatty acids to the liver, cell injury and inflammation are currently under investigation.
Journal ArticleDOI
Cytosolic lipolysis and lipophagy: two sides of the same coin
TL;DR: This Review discusses how cytosolic 'neutral' lipolysis and lipophagy, which utilizes 'acid'lipolysis in lysosomes, degrade cellular triacylglycerols as well as how these pathways communicate, how they affect lipid metabolism and energy homeostasis and how their dysfunction affects the pathogenesis of metabolic diseases.
Journal ArticleDOI
AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directions
Amedeo Lonardo,Fabio Nascimbeni,Giovanni Targher,Mauro Bernardi,Ferruccio Bonino,Elisabetta Bugianesi,Alessandro Casini,Amalia Gastaldelli,Giulio Marchesini,Fabio Marra,Luca Miele,Filomena Morisco,Salvatore Petta,Fabio Piscaglia,Gianluca Svegliati-Baroni,Luca Valenti,Stefano Bellentani +16 more
TL;DR: The results of ongoing studies are eagerly expected to lead to introduce into the clinical arena new diagnostic and prognostic biomarkers, prevention and surveillance strategies as well as to new drugs for a tailored approach to the management of NAFLD in the individual patient.
Journal ArticleDOI
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Željko Reiner,Ornella Guardamagna,Devaki Nair,Handrean Soran,Kees Hovingh,Stefano Bertolini,Simon Jones,Marijana Ćorić,Sebastiano Calandra,John A. Hamilton,Terence Eagleton,Emilio Ros +11 more
TL;DR: Practical guidance is provided to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease and a diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase.
Journal ArticleDOI
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Barbara K. Burton,Manisha Balwani,François Feillet,Ivo Barić,T. Andrew Burrow,Carmen Camarena Grande,Mahmut Çoker,Alejandra Consuelo-Sanchez,Patrick Deegan,Maja Di Rocco,Gregory M. Enns,Richard W. Erbe,Fatih Süheyl Ezgü,Can Ficicioglu,Katryn N. Furuya,John P. Kane,Christina M. Laukaitis,Eugen Mengel,Edward G. Neilan,Scott Nightingale,Heidi Peters,Maurizio Scarpa,K Otfried Schwab,Vratislav Smolka,Vassili Valayannopoulos,Marnie Wood,Zachary Goodman,Yijun Yang,Stephen Eckert,Sandra Rojas-Caro,Anthony G. Quinn +30 more
TL;DR: Sbelipase alfa therapy resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency and observed improvements in lipid levels and reduction in hepatic fat content.
References
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Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice
Hong Du,Terri L. Cameron,Stephen J. Garger,Gregory P. Pogue,Lee A. Hamm,Earl White,Kathleen M. Hanley,Gregory A. Grabowski +7 more
TL;DR: In this article, the GENEWARE® expression system (G-hLAL) was used to express human Lysosomal acid lipase (LAL), an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes.
Journal ArticleDOI
Microvesicular Steatosis of the Liver
TL;DR: The concept of "microvesicular fat diseases" as a unique entity seems no longer justified as the different conditions associated with microvesicular steatosis are heterogenous in many aspects.
Journal ArticleDOI
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin
Christoph Gasche,Charalampos Aslanidis,Renate Kain,Markus Exner,Thomas H. Helbich,Clemens Dejaco,Gerd Schmitz,Peter Ferenci +7 more
TL;DR: It is concluded that in two siblings with a novel LAL variant and mild phenotype of CESD, lovastatin decreased both serum lipid concentrations and hepatocellular lysosomal content.
Journal ArticleDOI
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
Venu T. Tadiboyina,Venu T. Tadiboyina,Dora M. Liu,Brooke A Miskie,Jian Wang,Robert A. Hegele,Robert A. Hegele +6 more
TL;DR: Preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group.
Journal ArticleDOI
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
TL;DR: The results suggest that E8SJM leads to essentially a null allele and that the differences in WD and CESD phenotype involve other factors.
Related Papers (5)
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Barbara K. Burton,Manisha Balwani,François Feillet,Ivo Barić,T. Andrew Burrow,Carmen Camarena Grande,Mahmut Çoker,Alejandra Consuelo-Sanchez,Patrick Deegan,Maja Di Rocco,Gregory M. Enns,Richard W. Erbe,Fatih Süheyl Ezgü,Can Ficicioglu,Katryn N. Furuya,John P. Kane,Christina M. Laukaitis,Eugen Mengel,Edward G. Neilan,Scott Nightingale,Heidi Peters,Maurizio Scarpa,K Otfried Schwab,Vratislav Smolka,Vassili Valayannopoulos,Marnie Wood,Zachary Goodman,Yijun Yang,Stephen Eckert,Sandra Rojas-Caro,Anthony G. Quinn +30 more