Search

Background: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized., Method: Literature search was performed. The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sitosterolemia and the treatment experience were described., Results: Fifty-five patients with sitosterolemia have been reported in China. These patients were aged from 3 months to 67 years at diagnosis, and the median was 8 years of age. Several complications, such as xanthomas in 47 patients (85%), thrombocytopenia in 17 patients (31%), anemia in 14 patients (25%), and cardiovascular damage in 12 patients (22%), were observed. Thirty-nine patients (71%) exhibited mutations in the ABCG5 gene, 15 patients (27%) showed mutations in ABCG8, and variations in both genes occurred in one patient (2%). A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI (GSD VI)), is reported here for the first time. The four reported patients were treated with low cholesterol and phytosterol-limited diet alone or combined with cholestyramine. Even though decreases were observed for total plasma cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C), and these levels were as low as normal in some patients, the levels of plant sterols remained above the normal range. However, TC, LDL-C and plant sterol levels remained at high levels in patients treated with a control diet control only., Conclusions: The analysis reveals that different from Caucasians carrying mainly variations in ABCG8, most Chinese patients have mutations in the ABCG5 gene, and Arg446Ter, Gln251Ter, anArg389His might be hot-spot mutations in Chinese patients. The current survey provides clinical data to enable the development of a standardized protocol for the diagnosis and treatment of sitosterolemia in China., (© 2022. The Author(s).)

Background: The proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab significantly reduces low-density lipoprotein cholesterol (LDL-C)., Objective: This study (ODYSSEY EAST) assessed the efficacy and safety of alirocumab vs ezetimibe in high cardiovascular risk patients from Asia., Methods: Patients (n = 615) from China, India, and Thailand with hypercholesterolemia at high cardiovascular risk on maximally tolerated statin were randomized (2:1) to alirocumab (75 mg every 2 weeks [Q2W]; with dose increase to 150 mg Q2W at week 12 if week 8 LDL-C was >1.81 mmol/L [>70 mg/dL]) or ezetimibe (10 mg daily) for 24 weeks. The primary efficacy endpoint was percentage change in calculated LDL-C from baseline to week 24. Safety was assessed throughout., Results: Baseline data were similar in both groups. LDL-C levels were reduced from baseline to week 24 by 56.0% and 20.3% in the alirocumab and ezetimibe groups, respectively (P < .0001 vs ezetimibe). Overall, 18.8% of alirocumab-treated patients received a dose increase to 150 mg Q2W. At week 24, 85.1% of alirocumab-treated and 40.5% of ezetimibe-treated patients reached LDL-C <1.81 mmol/L (<70 mg/dL, P < .0001 vs ezetimibe). Treatment-emergent adverse events occurred in 68.5% of alirocumab-treated and 63.1% of ezetimibe-treated patients, with upper respiratory tract infection the most common (alirocumab: 13.3%; ezetimibe: 14.1%). Injection-site reactions occurred more frequently in alirocumab-treated patients (2.7%) than in ezetimibe-treated patients (1.0%)., Conclusions: Alirocumab significantly reduced LDL-C vs ezetimibe in high cardiovascular risk patients from Asia and was generally well tolerated. These findings are consistent with previous ODYSSEY studies., (Copyright © 2020 National Lipid Association. Published by Elsevier Inc. All rights reserved.)

Background: Disturbances in maternal lipid metabolism have been shown to increase the risk of adverse pregnancy outcomes. However, there is no consensus as to what constitutes normal maternal lipid values during pregnancy. Thus, the aim of this study was to establish serum lipid reference ranges during early and middle pregnancy., Methods: We conducted a retrospective survey in Beijing from 2013 to 2014. A total of 17,610 singleton pregnancies with lipid data from early and middle pregnancy were included. First, after excluding women with adverse pregnancy outcomes, we performed a descriptive analysis of total cholesterol (TC), triglycerides (TG), high-density lipid cholesterol (HDL-C) and low-density lipid cholesterol (LDL-C) levels using means and standard deviations to determine appropriate percentiles. Second, in the total population, we examined the lipid levels in different trimesters with the risk of adverse pregnancy outcomes using categorical analyses and logistic regression models. Third, we determined the lipid reference range in early and middle pregnancy based on the first two results. Finally, based on the reference ranges we determined, we assessed whether the number of abnormal lipid values affected the risk of adverse pregnancy outcomes., Results: (1) Serum levels of TC, TG, LDL-C and HDL-C all increased significantly from early to middle pregnancy, with the greatest increase in TG. (2) A trend towards an increasing incidence of adverse pregnancy outcomes was observed with increasing levels of TC, TG, and LDL-C and decreasing levels of HDL-C in both early and middle pregnancy. (3) We recommend that serum TC, TG and LDL-C reference values in early and middle pregnancy should be less than the 95th percentiles, whereas that of HDL-C should be greater than the 5th percentile, i.e., in early pregnancy, TC < 5.64 mmol/L, TG < 1.95 mmol/L, HDL-C > 1.23 mmol/L, and LDL-C < 3.27 mmol/L, and in middle pregnancy, TC < 7.50 mmol/L, TG < 3.56 mmol/L, HDL-C > 1.41 mmol/L, and LDL-C < 4.83 mmol/L. (4) Higher numbers out-of-range lipids during early and middle pregnancy were correlated with a higher risk of adverse pregnancy outcomes., Conclusions: The reference ranges recommended in this paper can identify pregnant women with unfavourable lipid values.

Objective: The current overweight and central adiposity guidelines based on Western populations were not consistent with many studied based on the Asian populations. Uighur people live in Xinjiang Uighur Autonomous Region which is located in the center of Asia. Their overweight and central cutoffs were largely unknown. We aimed to identify cutoffs for body mass index (BMI; in kg/m(2)) and waist circumference (WC; in cm) for categorization of overweight and central adiposity among Uighur adults in Xinjiang., Methods: 4767 Uighur participants were selected from the Cardiovascular Risk Survey (CRS) which was carried out from October 2007 to March 2010. The age of the participants were from 35 to 101 years old with the mean age of 50.09 years. Anthropometric data, blood pressure, serum concentration of serum total cholesterol, triglyceride, low density lipoprotein (LDL), high density lipoprotein (HDL) and fasting glucose were documented. The prevalence, sensitivity, specificity and distance on the receiver operating characteristic (ROC) curve of each BMI and waist circumference values were calculated., Results: The prevalence of hypertension, hypercholesterolemia and hypertriglyceridemia were higher with higher BMI for both men and women. The prevalence of hypertension and hypercholesterolemia were higher with higher waist circumference for both men and women. In women, the prevalence of hypertriglyceridemia was noticed to increase as the waist circumference increased. The shortest distance in the receiver operating characteristic curves for hypertension, dyslipidemia, diabetes, or ≥ 2 of these risk factors suggested a BMI cutoff of 26 and a waist circumference cutoff of 90 cm for both men and women., Conclusions: Higher cutoffs for BMI and waist circumference are needed in the identification of Uighur patients at high risk of cardiovascular disease.