Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10193384" target="_blank" >RIV/00216208:11110/13:10193384 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/13:10193384
Result on the web
<a href="http://dx.doi.org/10.1016/j.jhep.2013.02.014" target="_blank" >http://dx.doi.org/10.1016/j.jhep.2013.02.014</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jhep.2013.02.014" target="_blank" >10.1016/j.jhep.2013.02.014</a>

Result language
angličtina
Original language name
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
Original language description
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatosis leading to liver failure, accelerated atherosclerosis and premature demise. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed. Here, the findings in 135 CESD patients described in the literature are reviewed. Diagnoses were based on liver biopsies, LAL deficiency and/or LAL gene (LIPA) mutations. Hepatomegaly was present in 99.3% of patients; 74% also had splenomegaly. When reported, most patients had elevated serum total cholesterol, LDL-cholesterol, triglycerides, and transaminases (AST, ALT, or both), while HDL-cholesterol was decreased. All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular stea
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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