Abstract：
:Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme.
journal_name
Atherosclerosisjournal_title
Atherosclerosisauthors
Reiner Ž,Guardamagna O,Nair D,Soran H,Hovingh K,Bertolini S,Jones S,Ćorić M,Calandra S,Hamilton J,Eagleton T,Ros Edoi
10.1016/j.atherosclerosis.2014.04.003subject
Has Abstractpub_date
2014-07-01 00:00:00pages
21-30issue
1eissn
0021-9150issn
1879-1484pii
S0021-9150(14)00202-0journal_volume
235pub_type
杂志文章,评审相关文献
ATHEROSCLEROSIS文献大全abstract：OBJECTIVE:The purpose of this study was to evaluate whether the extent of epicardial adipose tissue (EAT) thickness or the presence of descending thoracic aortic calcification on multi-detector CT (MDCT) can predict the presence of significant coronary artery stenosis in patients with negative coronary artery calcium (...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2010.01.047
更新日期：2010-10-01 00:00:00
abstract：:The goal of the present study was to compare the allele frequency of four polymorphisms at the apo A-I C-III A-IV cluster gene locus-ApoA-I: XmnI and PstI; ApoC-III: SstI; ApoA-IV: XbaI-between male patients who had had a myocardial infarction (n= 614) and matched controls (n = 764). The association with a number of l...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(99)00066-0
更新日期：1999-07-01 00:00:00
abstract：:Histologic features of aortic fatty streaks were examined in male subjects aged 10-39 from Guatemala, Jamaica Negro, Durban Bantu, New Orleans Negro, New Orleans white, Lima and Santiago. These groups were selected from the 19 available in the IAP (International Atherosclerosis Project) because they represented the gr...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(75)90079-9
更新日期：1975-03-01 00:00:00
abstract：:Evidence for chemical and biological heterogeneity of human plasma lipoprotein density classes has been steadily accumulating over the last 15 years. Furthermore, several recent reports have indicated potential clinical significance of certain lipoprotein subspecies as either atherogenic or antiatherogenic. It is gene...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(92)90019-d
更新日期：1992-08-01 00:00:00
abstract：:Elevated serum ferritin concentrations between 200 and 500 microg/l have been found to be a strong risk factor for acute myocardial infarction in Finnish men, but the reason for this association is still uncertain. In the Finnish population ferritin concentrations correlated with factors of insulin resistance syndrome...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(96)05994-1
更新日期：1997-02-10 00:00:00
abstract：:Cardiovascular risk is increased in patients with diabetic nephropathy. The aim of this study was to examine the relative impacts of albuminuria and renal failure, the two important features of diabetic nephropathy, on potentially atherogenic lipoprotein changes in this condition. The subjects were 160 non-diabetic he...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(00)00673-0
更新日期：2001-06-01 00:00:00
abstract：:The effect of administering blackgram (Phaseolus mungo) fiber (isolated as neutral detergent residue) at the 30% dietary level has been studied with regard to lipid concentration in the tissues and that of biliary and fecal bile acids and sterols. Rats were fed a high fat-cholesterol diet and compared with those fed a...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(79)90196-5
更新日期：1979-05-01 00:00:00
abstract：:Endurance exercise training is known to produce favorable changes in the metabolic profile including reduced plasma triglyceride (TG) and increased high-density lipoprotein (HDL) cholesterol concentrations. These metabolic improvements are likely to contribute to the reduced coronary heart disease (CHD) risk often obs...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(01)00515-9
更新日期：2001-12-01 00:00:00
abstract：AIMS:To examine the association between white blood cell count (WBC) and metabolic syndrome (MS) in an older Chinese population. METHODS:Three thousand and twenty men and 7,256 women aged 50-85 years were recruited and received a medical check-up including measurement of complete blood count, blood pressure, obesity i...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2007.12.053
更新日期：2008-12-01 00:00:00
abstract：:Male adult New Zealand rabbits were fed a 2% cholesterol diet for 60 days followed by 10, 20, or 30 days of normal low cholesterol diet. Collagen synthesis was estimated by measuring aortic prolyl hydroxylase activity. Tissue cholesterol accumulation rates were estimated by dividing total tissue cholesterol by the num...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(80)90006-4
更新日期：1980-10-01 00:00:00
abstract：:The intravascular metabolism of sterol labeled [1,2,6,7-3H(N)]cholesteryl oleate and acyl labeled cholesteryl [9,10-3H]oleate and cholesteryl [1-14C]oleate was compared in the rat, an animal species without plasma cholesteryl ester transfer activity (CETA). In a first series of studies, the metabolism of sterol labele...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(94)90125-2
更新日期：1994-04-01 00:00:00
abstract：:Heritability of plasma apolipoprotein (apo) A-I, apo B, and low density lipoprotein (LDL) subclasses and concordance for lipoprotein(a) excess were assessed in 109 monozygotic (MZ) and 113 dizygotic (DZ) twin pairs participating in the third examination of the National Heart, Lung, and Blood Institute Twin Study. The ...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(91)90191-5
更新日期：1991-11-01 00:00:00
abstract：OBJECTIVE:We investigated whether statin-treated heterozygous familial hypercholesterolemic (FH) patients have lower plasma coenzyme Q(10) (CoQ(10)) levels than low-density lipoprotein receptor (LDLR) mutation negative FH patients on equivalent statin doses, and whether lower CoQ(10) concentrations are associated with ...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2011.04.034
更新日期：2011-09-01 00:00:00
abstract：BACKGROUND AND AIM:Hypercholesterolaemia is a major risk factor for atherosclerosis. Cholesterol is modulated by genetic and environmental factors. An important regulatory pathway is controlled by the sterol-regulatory element-binding proteins (SREBPs) and the SREBP cleavage-activating protein (SCAP). Both SREBP-2 and ...
journal_title：Atherosclerosis
pub_type： 杂志文章,多中心研究
doi：10.1016/j.atherosclerosis.2006.01.001
更新日期：2006-12-01 00:00:00
abstract：:Occlusive arterial disease stimulates compensatory growth of pre-existent and new arterial channels which help to maintain organ perfusion. Previous studies characterizing compensatory or collateral vascular growth have been performed in normocholesterolemic animals. Because hyperlipidemic states alter vascular regula...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(98)00073-2
更新日期：1998-08-01 00:00:00
abstract：:Tumor necrosis factor-alpha (TNF-alpha) is known to be a secretory product of activated macrophages. TNF-alpha activates endothelial cells, stimulates angiogenesis and induces proliferation of smooth muscle cells (SMCs). Therefore, TNF-alpha has been suggested to be actively involved in the inflammatory events associa...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(96)05863-7
更新日期：1996-08-23 00:00:00
abstract：BACKGROUND AND AIMS:Atherosclerosis develops with age and is partially controlled by genetics. Research to date has identified common variants with small effects on atherosclerosis related traits. We aimed to use family-based genome-wide linkage analysis to identify chromosomal regions potentially harboring rare varian...
journal_title：Atherosclerosis
pub_type： 杂志文章,多中心研究
doi：10.1016/j.atherosclerosis.2019.10.008
更新日期：2019-12-01 00:00:00
abstract：:We describe the characterization of a novel mutation in the low density lipoprotein receptor (LDL-R) gene in a patient with true homozygous familial hypercholesterolemia (FH). The combined use of denaturing gradient gel electrophoresis (DGGE) and sequencing of genomic DNA revealed a guanine to adenine base substitutio...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(99)00415-3
更新日期：2000-08-01 00:00:00
abstract：BACKGROUND:In Europeans, 45 genetic risk variants for coronary artery disease (CAD) have been identified in genome-wide association studies. We constructed a genetic risk score (GRS) of these variants to estimate the effect on incidence and clinical predictability of myocardial infarction (MI) and CAD. METHODS:Genotyp...
journal_title：Atherosclerosis
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.atherosclerosis.2015.03.022
更新日期：2015-06-01 00:00:00
abstract：BACKGROUND:Toll like receptors (TLR) have been recognized for their role in atherosclerotic lesion development and progression. Endogenous TLR ligands that are also expressed in atherosclerotic tissues have been shown to promote atherosclerosis in mice. Since repetitive stimulation of TLR induces an attenuated inflamma...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2007.08.004
更新日期：2008-03-01 00:00:00
abstract：:The effects of chronic renal failure (CRF) and corticosteroid treatment on the aortic uptake of labelled free and esterified cholesterol (FC and EC) were investigated in normocholesterolemic rabbits. Methylprednisolone, 0.4 mg/day, or placebo was administered for 14 weeks to rabbits with normal renal function and with...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(83)90155-7
更新日期：1983-05-01 00:00:00
abstract：:The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the ...
journal_title：Atherosclerosis
pub_type： 杂志文章,评审
doi：10.1016/j.atherosclerosis.2011.11.034
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:In coronary artery disease (CAD), concomitant peripheral arterial disease (PAD) entails more severe coronary atherosclerosis. We investigated whether the inflammatory status of affected limbs impairs coronary artery endothelial function (CAEF). METHODS:We measured the neutrophil myeloperoxidase content (NMP...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2008.01.014
更新日期：2008-12-01 00:00:00
abstract：:Familial hypobetalipoproteinemia is an autosomal co-dominant disorder, which in a minority of cases is due to a truncation producing mutation in the apoB gene. We have identified an apoB mutation in a 40-year old hypobetalipoproteinemic man with Type II diabetes mellitus. Immunoblotting of plasma revealed a major band...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(97)00222-0
更新日期：1998-02-01 00:00:00
abstract：AIMS:The ubiquitin-activating enzyme E1 (UBA1, E1), the apex of the ubiquitin proteasome pathway, plays a critical role in protein degradation and in pathological processes. Whether UBA1 participates the development of vascular restenosis remains unknown. This study aims to determine the role of UBA1 in the development...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2016.02.016
更新日期：2016-04-01 00:00:00
abstract：:Bezafibrate in a dosage of 200 mg 3 times daily was given to 24 patients with type II A (n = 8), II B (n = 1) and IV (n = 15) hyperlipoproteinaemia for 4.5 years. In type II A the content of total cholesterol and that of low density lipoprotein in serum decreased by 10-23 and 11-34 percent over the years compared to p...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(85)90098-x
更新日期：1985-05-01 00:00:00
abstract：:Reconstituted high-density lipoprotein (rHDL) has been shown to produce a rapid regression of atherosclerosis in animal models and humans. Sphingosine-1-phosphate (S1P), which is a bioactive lipid in HDL, plays a role in mitogenesis, endothelial cell motility, and cell survival, as well as organization and differentia...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2006.10.020
更新日期：2007-09-01 00:00:00
abstract：:In this study, lipid peroxides in plasma and the low density lipoprotein (LDL) fraction and plasma concentrations of vitamin E, lipids and lipoproteins were measured in 22 smokers (mean age 35 years), 26 non-smoking patients with peripheral vascular disease (PVD), mean age 66 years), and 23 younger (ages < or = 55 yea...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/0021-9150(95)05591-j
更新日期：1995-11-01 00:00:00
abstract：OBJECTIVE:We investigated the separate impact of metabolic syndrome (MS) and altered glucose tolerance on early markers of vascular injuries. METHODS:Intima-media thickness (IMT) and pulse wave analysis (PWA), were evaluated in 132 overweight or obese subjects, with (MS(+)) or without (MS(-)) MS; subjects were further...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/j.atherosclerosis.2012.05.008
更新日期：2012-08-01 00:00:00
abstract：BACKGROUND:In acute myocardial infarction (AMI) treated conservatively or with thrombolysis, marked increases of C-reactive protein (CRP) and fibrinogen have been observed. No data are however available concerning a possible relation between CRP and fibrinogen levels on admission and markers of infarct size after obtai...
journal_title：Atherosclerosis
pub_type： 杂志文章
doi：10.1016/s0021-9150(00)00703-6
更新日期：2001-07-01 00:00:00
