Libyan family with hypercholesterolemia and increased high-density lipoprotein cholesterol in plasma

1994 ◽  
Vol 40 (12) ◽  
pp. 2313-2316 ◽  
Author(s):  
D S Sheriff ◽  
M el Fakhri ◽  
K Ghwarsha

Abstract Genetic deficiencies of cholesteryl ester transport protein (CETP) and hepatic lipase activities have been associated with hyperalpha-lipoproteinemias. Here we present a family of 11 members, of which 9, including the father, mother, 5 sons, and 2 daughters, show a marked increase in high-density lipoprotein (HDL) cholesterol alone with low plasma concentrations of triglycerides. Analyses of lecithin:cholesterol acyltransferase (LCAT) activity, cholesteryl ester transfer between HDL fractions, hepatic lipase (HL) activity, and lipoprotein lipase (LPL) activity in these cases showed that a decrease in the heparin-releasable HL activity was the possible cause of the marked increase of HDL2 fractions observed in nine of them. Such a defect in HL activity could significantly affect HDL metabolism in particular and lipoprotein metabolism in general. Evidently, a marked increase in serum total cholesterol due to abnormal metabolism of HDL cholesterol, separate from known causes of altered low-density lipoprotein cholesterol metabolism, e.g., a clearance or a receptor defect, is not uncommon. The coordinated action of HL, LCAT, LPL, and CETP may be essential for normal metabolism of plasma lipoproteins.

2003 ◽  
Vol 105 (4) ◽  
pp. 467-472 ◽  
Author(s):  
Nassr M. AL-DAGHRI ◽  
Omer AL-ATTAS ◽  
Ashok PATEL ◽  
Nikolai D. BELYAEV ◽  
William A. BARTLETT ◽  
...  

Plasma concentrations of HDL (high-density lipoprotein) cholesterol are low in the Saudi Arabian population. A B polymorphism at the CETP (cholesteryl ester protein transfer) locus that is detectable with the restriction enzyme TaqI is a genetic determinant of the plasma HDL cholesterol concentration. We assessed the relationship between the TaqI B CETP polymorphism and lipid and apolipoprotein concentrations in a study sample of 335 Saudi residents. The TaqI B1 and B2 allele frequencies were 0.54 and 0.46 respectively, similar to those in other populations. HDL cholesterol levels in B2B2 homozygotes were significantly higher than in B1B1 homozygotes [1.01 (0.3) compared with 0.92 (0.2) mmol/l; mean (S.D.); P=0.03]. There was also a significant difference between the B2B2 and B1B1 homozygotes with regard to apolipoprotein AI concentration [123.6 (16.4) compared with 113.7 (13.9) mg/dl; P=0.04]. This genetic variation was independent of metabolic risk factors known to influence HDL cholesterol levels. The allele frequency of the TaqI B CETP polymorphism and its relatively modest impact on HDL cholesterol concentrations argue against an important role for this allele, or for strongly linked loci, in determining the low levels of HDL cholesterol seen in the Saudi population.


2021 ◽  

Background: Dyslipidemia, a genetic and multifactorial disorder of lipoprotein metabolism, is defined by elevations in levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), non-high-density lipoprotein cholesterol (non–HDL-C), triglyceride, or some combination thereof, as well as lower levels of high-density lipoprotein (HDL) cholesterol. Objectives: This study aimed to investigate the prevalence and predictors of dyslipidemia in children and adolescents in the Yazd Greater Area, Yazd, Iran. Methods: This cross-sectional study was conducted as a part of the national project implemented in Yazd Greater Area, Yazd, Iran. The sampling was performed using a multi-stage cluster sampling method on three age groups of girls and boys (6-9, 10-14, and 15-18 years old). Out of the total 1,035 children and adolescents who participated in this study, only 784 participants remained in the study until the end. Data collection was performed using lifestyle questionnaires including Kiddie-SADS-Present and Lifetime Version. Results: The prevalence of high triglyceride was estimated at 1.4% and 4.2% in 6-9 and 10-18 years old children and adolescents, respectively. The prevalence of high cholesterol, LDL, and HDL was 3.2%, 3.2%, and 25.6%, respectively. The prevalence of dyslipidemia in the total population of children and adolescents in terms of demographic variables was 64.6% and 57.3% in boys and girls, respectively (P=0.038). Gender and increase in body mass index were significantly associated with dyslipidemia with OR=1.35; 95% CI: 1.01-1.81 and OR=13.781; 95% CI: 3.78- 46.43, respectively. However, after adjustment for other factors, only an increase in BMI was significantly associated with dyslipidemia (OR=16.08; 95% CI: 4.49-57.59). Conclusions: Overweight and obese adolescents had a higher concentration of serum blood triglycerides, compared to other adolescents. Weight control, lifestyle modification, and diet are three ways to reduce lipid disorders in adolescents.


1997 ◽  
Vol 43 (6) ◽  
pp. 1048-1055 ◽  
Author(s):  
Yi-Chang Huang ◽  
Jau-Tsuen Kao ◽  
Keh-Sung Tsai

Abstract We evaluated the performance of two homogeneous assays for quantifying HDL cholesterol (HDL-C) and compared them with the phosphotungstic acid (PTA)/MgCl2 assay. Both homogeneous HDL-C assays were precise, having a within-run CV of <1.20% and a between-run CV of <4.07%. The HDL-C values (y) measured by the two homogeneous methods correlated well with those by the PTA/MgCl2 method (x): y = 1.00x + 64.98 mg/L, r = 0.987, Sy|x = 27.99 mg/L (n = 152) for the polyethylene glycol-modified enzymes/α-cyclodextrin sulfate (PEGME) assay (Kyowa), and y = 0.84x + 106.51 mg/L, r = 0.984, Sy|x = 26.10 mg/L (n = 152) for the polyanion–polymer/detergent (PPD) assay (Daiichi). The specificity of the PEGME method seemed better than that of the PPD method, as the PPD method was markedly interfered with by supplemental LDL-C. Addition of 20 g/L triglycerides produced a negative error of ∼18% in both homogeneous assays. Bilirubin and hemoglobin had little influence on the PEGME method; hemoglobin had little effect on the PPD method. Bilirubin, however, markedly decreased the readings by the PPD method. We found the PEGME assay superior to the PPD assay for routine HDL-C testing, because the PPD assay is relatively inaccurate and not specific.


1983 ◽  
Vol 65 (6) ◽  
pp. 669-672 ◽  
Author(s):  
R. S. Elkeles ◽  
S. R. Khan ◽  
V. Chowdhury ◽  
M. B. Swallow

1. Changes in serum triglyceride and high density lipoprotein (HDL) cholesterol after a fatty meal have been studied in smokers and non-smokers. 2. Average serum triglyceride during the study was higher in smokers than in non-smokers. 3. In non-smokers there was a rise in the HDL2/HDL3 cholesterol ratio after oral fat, but not in smokers. 4. These findings are compatible with the hypothesis that smoking interferes with the lipolysis of triglyceride rich lipoproteins and the conversion of HDL3 into HDL2.


1998 ◽  
Vol 83 (8) ◽  
pp. 2921-2924 ◽  
Author(s):  
K. C. B. Tan ◽  
S. W. M. Shiu ◽  
A. W. C. Kung.

abstract To investigate the effect of thyroid dysfunction on high-density lipoprotein (HDL) metabolism, we measured HDL subfractions, apolipoprotein A-I containing particles (LpA-I and LpA-I:A-II), and the activities of enzymes involved in the remodeling and metabolism of HDL[ namely hepatic lipase (HL), lipoprotein lipase, and cholesteryl ester transfer protein (CETP)] in 18 hyperthyroid and 17 hypothyroid patients before and after treatment. HDL was subfractionated by density gradient ultracentrifugation, and LpA-I was analyzed by electroimmunodiffusion. The major changes were found in the HDL2 subfraction and in LpA-I particles. HDL2-C and LpA-I were reduced in hyperthyroidism (P < 0.01, P < 0.05, respectively) and increased in hypothyroidism (both P < 0.05) compared with their respective euthyroid matched controls. Changes in HDL2-cholesterol were reversed after treatment in both hyper- and hypothyroid patients, and LpA-I also decreased in the hypothyroid patients after treatment. HL (P < 0.05) and CETP activities (P < 0.05) were elevated in hyperthyroidism and reduced in hypothyroidism (P < 0.05, P < 0.01 respectively) and both were related to free T4 levels. The changes in HDL2-C and LpA-I correlated significantly with changes in HL after treatment but not with CETP or lipoprotein lipase. In summary, HDL metabolism was altered in thyroid dysfunction, and the effect of thyroid hormone on HDL was mediated mainly via its effect on HL activity.


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