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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10193384

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Hepatology

ISSN

0168-8278

e-ISSN

—

Svazek periodika

58

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

14

Strana od-do

1230-1243

Kód UT WoS článku

000318960700024

EID výsledku v databázi Scopus

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