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Cholesterol-Ester Transfer Protein Deficiency

Hyperalphalipoproteinemia


Presentation

  • As cholesterol ester is carried in the form of VLDL or chylomicron, the transport of cholesterol ester in HDL is reduced and the cholesterol ester is pulled out of HDL particles reducing its size and presenting the serum HDL level being dropped.[e-kjgm.org]
  • Barter P. lecture presentation. HDL- mostly good - sometimes bad? American Diabetes Association Conference (June 10th 2006). Links: high or increased HDL cholesterol[gpnotebook.co.uk]
  • In the present study, the interaction between SR-BI and CE-rich HDL from CETP-deficient patient was studied in order to evaluate the anti-atherosclerotic role of SR-BI in relation to CE uptake and reverse cholesterol transport.[okayama.pure.elsevier.com]
  • Thus, differences in environmental factors may explain our present data.[nature.com]
  • Such consistency in biomarkers of lipid metabolism between earlier and present studies suggests the pertinence of our present findings to the general context of heterozygous CETP deficiency.[journals.plos.org]
Coronary Atherosclerosis
  • Both aortic and coronary atherosclerosis was significantly reduced in KO rabbits compared with WT rabbits.[experts.umich.edu]
  • The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. TheRegression Growth Evaluation Statin Study Group. N Engl J Med 1998;338(2):86-93.[bjbms.org]
  • Epidemiological studies in Japanese-Americans living in Hawaii and Japanese in the Omagari area, where HALP subjects with an intron 14 splicing defect of the CETP gene are markedly frequent, have shown a relatively increased incidence of coronary atherosclerosis[ncbi.nlm.nih.gov]
  • These results indicate that the CETP promoter -1337C T polymorphism is associated with the progression of coronary atherosclerosis in Japanese patients with FH, independent of HDL-C and triacylglycerol levels [15].[wikigenes.org]
Heart Disease
  • The frequency of the CETP gene mutation was higher in patients with coronary heart disease than in healthy control subjects.[ncbi.nlm.nih.gov]
  • Patients with coronary heart disease have lower levels of large HDL particles 27 and higher levels of small, dense LDL particles 27,34,35 than do subjects without coronary heart disease.[nejm.org]
  • TABLE 1: SHOWING REFERENCE LEVELS OF HDL, LDL, TOTAL CHOLESTEROL AND TRIGLYCERIDES HDL 60 (mg/dL) Desirable - helps to lower risk of heart disease Major risk factor -- increases the risk for developing heart disease LDL Cholesterol Less than 100(mg/dL[ijpsr.com]
  • Serum lipoproteins and coronary heart disease in a population study of Hawaii Japanese men. N Engl J Med. 1976 ; 294 : 293 -298. 22 Corti MC, Guralnik JM, Salive ME, et al. HDL cholesterol predicts coronary heart disease mortality in older persons.[academic.oup.com]
Thrombosis
  • , and Vascular Biology T2 - Arteriosclerosis, Thrombosis, and Vascular Biology JF - Arteriosclerosis, Thrombosis, and Vascular Biology SN - 1079-5642 IS - 6 ER -[experts.umich.edu]
  • Arteriosclerosis and Thrombosis 14 , 336 – 344 .[cambridge.org]
  • 1 NORT Nutrition, Obesity and Risk of Thrombosis, Aix-Marseille University, INRA, INSERM, 13385 Marseille, France 2 Adisseo France S.A.S., Center of Expertise and Research in Nutrition, 03600 Commentry, France 3 Institut Galien Paris Sud, UMR 8612, Univ[mdpi.com]
  • Arteriosclerosis, Thrombosis, and Vascular Biology. 23 (2): 160–7. doi : 10.1161/01.ATV.0000054658.91146.64. PMID 12588754. Dallinga-Thie GM, Dullaart RP, van Tol A (June 2007).[en.wikipedia.org]
Hypertension
  • (PMID: 19155782) Ruixing Y … Shangling P (Journal of hypertension 2009) 3 22 45 60[genecards.org]
  • A diagnosis of hypertension was made when either systolic BP was 140 mmHg or diastolic BP was 90 mmHg or when the participant was taking medication for high BP.[academic.oup.com]
  • Both LS and non-LS groups had no obesity, diabetes mellitus and hypertension which are risk factors for CHD. Additionally, they did not suffer from stroke, cancer, dementia or other age-related diseases.[benthamopen.com]
  • In a recent analysis of 54 nondiabetic patients with arterial hypertension, small dense LDL levels were found to be elevated in 63% of patients at baseline ( 84 ).[care.diabetesjournals.org]
Suggestibility
  • Abstract Low levels of HDL cholesterol have been clearly demonstrated to be associated with an increased incidence of coronary heart disease, strongly suggesting that HDL particles have an antiatherogenic function.[ncbi.nlm.nih.gov]
  • A trend also suggested that men with either the D442G or Int 14A CETP mutations have a lower incidence of CHD.[academic.oup.com]
  • These findings suggest that the transfer of CSA between HDL and LDL is only partially facilitated through LTP I CE transfer activity. Footnotes Send reprint requests to: Dr. Kishor M.[jpet.aspetjournals.org]
  • In addition, the coexpression of wild-type and mutant cDNAs reduces wild-type secretion and activity, which suggests that the D442G mutation has a dominant role during cellular expression ( 14 ).[nature.com]
  • Associations of CETP with chemical compounds Although CETP reduces HDL levels, its role in reverse cholesterol transport suggests a dominant anti-atherogenic action in vivo [1].[wikigenes.org]

Workup

Hypercholesterolemia
  • Hyperalphalipoproteinemia Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 3 Hyperlipoproteinemia type 5 Hypoalphalipoproteinemia[se-atlas.de]
  • Bagdade , JD , Ritter , MC and Subbaiah , PV ( 1992 ) Accelerated cholesteryl ester transfer in plasma of patients with hypercholesterolemia . Journal of Clinical Investigation 87 , 1259 – 1265 .[cambridge.org]
  • "Effect of torcetrapib on carotid atherosclerosis in familial hypercholesterolemia". The New England Journal of Medicine. 356 (16): 1620–30. doi : 10.1056/NEJMoa071359. PMID 17387131.[en.wikipedia.org]
  • Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and postprandial plasma lipoprotein levels in heterozygotes for familial hypercholesterolemia Clin Chem Lab Med 2007; 45: 1190-8. ].[benthamopen.com]
  • Disease relevance of CETP CETP gene expression is upregulated in response to increased dietary cholesterol or endogenous hypercholesterolemia [1].[wikigenes.org]
HDL Increased
  • However, the CETP inhibitor torcetrapib was found to increase cardiovascular events, since HDL increased and LDL decreased substantially 10, 11.[ijpsr.com]
Ischemic Changes
  • There was a statistically significant U-shaped relationship between HDL cholesterol levels and the incidence of ischemic changes in electrocardiograms.[ncbi.nlm.nih.gov]
Foam Cell
  • Moreover, the particle size of HDL in CETP-deficient patient decreased significantly when the HDL was added to the medium of SR-BI CHO cells, and this HDL showed an increment of CE efflux from foam cells.[okayama.pure.elsevier.com]

Treatment

  • […] peripheral parts are transported as HDL. 9, 10) The existence of highly concentrated HDL in the blood has been widely known as one of independent factors to prevent atherosclerotic coronary diseases from most studies. 2004 Revised Version of the Adult treatment[e-kjgm.org]
  • Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III).[benthamopen.com]
  • The VA-HIT study found that gemfibrozil treatment of men with CHD selected on the basis of HDL levels 42 ). A portion of the treatment benefit was associated with an increase in HDL.[care.diabetesjournals.org]
  • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults.[nejm.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]

Prognosis

  • It is concluded that screening of Taq1B polymorphism may help to predict the prognosis of cardiovascular diseases and also their response to statins and other cholesterol lowering drugs.[ijpsr.com]
  • N Engl J Med 339 : 1349 –1357, 1998 Pyörälä K, Pedersen TR, Kjekshus J, Faergeman O, Olsson AG, Thorgeirsson G: Cholesterol lowering with simvastatin improves prognosis of diabetic patients with coronary heart disease: a subgroup analysis of the Scandinavian[care.diabetesjournals.org]

Epidemiology

  • Epidemiological studies in Japanese-Americans living in Hawaii and Japanese in the Omagari area, where HALP subjects with an intron 14 splicing defect of the CETP gene are markedly frequent, have shown a relatively increased incidence of coronary atherosclerosis[ncbi.nlm.nih.gov]
  • Recent prospective epidemiological studies demonstrated atheroprotective roles of CETP. CETP inhibition induces formation of small dense LDL and possibly dysfunctional HDL and downregulates hepatic scavenger receptor class B type I (SR-BI).[journals.lww.com]
  • Genatlas disease for CETP Gene elevated lipoprotein,high density (HDL) with coronary heart disease (Japanese-American men) Relevant External Links for CETP Genetic Association Database (GAD) CETP Human Genome Epidemiology (HuGE) Navigator CETP Atlas of[genecards.org]
  • On the negative side, the epidemiologic data are not universally supportive.[academic.oup.com]
  • Epidemiologic studies have also demonstrated a relationship between plasma free fatty acid levels and insulin resistance ( 30 ).[care.diabetesjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • The current study indicated for the first time that a marked HALP caused by CETP gene mutation may not represent a longevity syndrome, suggesting the importance of reevaluation of the clinical significance and pathophysiology of a marked HALP.[ncbi.nlm.nih.gov]
  • Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein. Biochim Biophys Acta 2000;1529(1-3):257-275. (00)00164-5 Bernard S, Moulin P, Lagrost L, Picard S, Elchebly M, Ponsin G, et al.[bjbms.org]
  • Yamashita S, Hirano K, Sakai N, Matsuzawa Y: Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein. Biochim Biophys Acta 1529: 257-275, 2000 Google Scholar 26.[link.springer.com]
  • PATHOPHYSIOLOGY OF DIABETIC DYSLIPIDEMIA Altered metabolism of triglyceride-rich lipoproteins is crucial in the pathophysiology of the atherogenic dyslipidemia of diabetes.[care.diabetesjournals.org]

Prevention

  • […] atherosclerotic coronary diseases from most studies. 2004 Revised Version of the Adult treatment Panel III had considered that when the serum HDL level is 60mg/dL, it becomes an advantageous factor for prevention of atherosclerotic coronary diseases.[e-kjgm.org]
  • Objective-CETP (cholesteryl ester transfer protein) plays an important role in lipoprotein metabolism; however, whether inhibition of CETP activity can prevent cardiovascular disease remains controversial.[experts.umich.edu]
  • Objective— CETP (cholesteryl ester transfer protein) plays an important role in lipoprotein metabolism; however, whether inhibition of CETP activity can prevent cardiovascular disease remains controversial.[ingentaconnect.com]
  • Statins exhibit action beyond lipid-lowering activity in the prevention of atherosclerosis.[ijpsr.com]
  • In particular, post hoc analyses of trials using statins for primary prevention ( 85 ) and secondary prevention of CHD ( 86 – 88 ) found a substantially reduced risk for cardiovascular events in diabetic patients.[care.diabetesjournals.org]

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