Background:China is one of the countries with the largest number of patients with homozygous familial hypercholesterolemia (HoFH) in the world. Improving the quality of life and health outcomes for HoFH patients in China is of great importance. Therefore, the aim of this study is to assess the quality of life of HoFH patients in China and to investigate the factors that influence quality of life. Methods:Data were obtained from a national epidemiological survey of HoFH patients conducted by Beijing Anzhen Hospital, affiliated with Capital Medical University, during 2017-2019. The questionnaire included patient demographic information, disease information, family economic status and health-related quality of life. Quality of life was assessed using the EuroQol five-dimension three-level (EQ-5D-3L) questionnaire. Data processing and statistic tests are performed using Python libraries. Results:This investigation incorporated a sample size of 53 patients diagnosed with HoFH, with an average age of 27.92 years. It was observed that 45.28% of these patients' families were subjected to catastrophic health expenditure. The mean and median health utility scores were calculated to be 0.849 and 0.875, respectively, a figure that is significantly lower when compared to the scores of the general population. Furthermore, it was noted that 52.83% of the patients exhibited some level of difficulty or extreme difficulty in at least one dimension of the EQ-5D-3L. Significant Factors negatively affecting the quality of life of HoFH patients include the presence of atherosclerotic cardiovascular disease (ASCVD), hospitalisation in the past year, taking multiple medications, higher than average healthcare expenditure per capita, catastrophic healthcare expenditure and debt due to HoFH. After application of Benjamini-Hochberg method to minimize type 1 error, the occurrence of ASCVD and debt due to HoFH are likely to exert the most significant influence. Substantial relevance of the two factors are also evidenced by large effect sizes and adequate statistical power. Conclusions:Chinese patients with HoFH showed lower quality of life than the general population. Policy makers should consider the policy that improves early diagnosis, employment prospects, and the availability of HoFH-related interventions and provision of financial assistance for patients suffering from HoFH.

Background Although previous studies have suggested that left ventricular ejection fraction (LVEF) adjusted by left ventricular mass (LVM) might improve prognostic risk stratification of cardiac events, few prospective cohort studies have examined its clinical implications. We assessed the predictive ability of LVEF indexed to LVM, body surface area (BSA), and body mass index for the cardiac event risk. Methods We conducted a 5.52‐year cohort study on the association between LVEF indexed to LVM and cardiac events among 4266 participants with mildly reduced or preserved LVEF. Multivariable Cox regression analysis incorporating restricted cubic spline functions evaluated the predictive ability of LVEF, LVEF/LVM, and other indexed measures. Results After multivariable Cox regression adjustment, LVEF/LVM, LVEF/LVM/BSA, and LVEF/LVM/body mass index remained significantly associated with cardiac events (all P<0.05), whereas LVEF alone was not (P=0.569). Restricted cubic spline analysis identified a nonlinear approximately U‐shaped relationship for both LVEF/LVM and LVEF/LVM/BSA (both P for nonlinearity<0.001). Compared with the middle reference group, participants in the low LVEF/LVM (hazard ratio [HR], 2.00 [95% CI, 1.08–3.71]) and low LVEF/LVM/BSA (HR, 2.13 [95% CI, 1.11–4.07]) groups had significantly higher risks. While the high groups showed nonsignificant differences (LVEF/LVM: HR, 1.41 [95% CI, 0.68–2.95]; LVEF/LVM/BSA: HR, 1.39 [95% CI, 0.65–2.99]), the observed risk pattern indicated that values outside the ranges of 4.72 to 5.53/kg (LVEF/LVM) and 19.7 to 24.3 m2/kg2 (LVEF/LVM/BSA) suggested a higher cardiac event risk. Conclusions LVEF indexed to LVM provides better cardiac event risk stratification than LVEF alone in individuals with mildly reduced or preserved ejection fraction.

Current guidelines encourage large studies in a diverse population to establish normal reference ranges for three-dimensional (3D) echocardiography for different ethnic groups. This study was designed to establish the normal values of 3D-left ventricular (LV) and left atrial (LA) volume and function in a nationwide, population-based cohort of healthy Han Chinese adults. A total of 1117 healthy volunteers aged 18–89 years were enrolled from 28 collaborating laboratories in China. Two sets of 3D echocardiographic instruments were used, and full-volume echocardiographic images were recorded and transmitted to a core laboratory for image analysis with a vendor-independent off-line workstation. Finally, 866 volunteers (mean age of 48.4 years, 402 men) were qualified for final analysis. Most parameters exhibited substantial differences between different sex and age groups, even after indexation by body surface area. The normal ranges of 3D-LV and 3D-LA volume and function differed from those recommended by the American Society of Echocardiography and the European Association of Cardiovascular Imaging guidelines, presented by the World Alliance Societies of Echocardiography (WASE) study, and from the 2D values in the EMINCA study. The normal reference values of 3D echocardiography-derived LV and LA volume and function were established for the first time in healthy Han Chinese adults. Normal ranges of 3D-LV and 3D-LA echocardiographic measurements stratified with sex, age, and race should be recommended for clinical applications.

Three-dimensional (3D) echocardiography is an emerging technique for assessing right ventricular (RV) volume and function, but 3D-RV normal values from a large Chinese population are still lacking. The aim of the present study was to establish normal values of 3D-RV volume and function in healthy Chinese volunteers. A total of 1117 Han Chinese volunteers from 28 laboratories in 20 provinces of China were enrolled, and 3D-RV images of 747 volunteers with optimal image quality were ultimately analyzed by a core laboratory. Both vendor-dependent and vendor-independent software platforms were used to analyze the 3D-RV images. We found that men had larger RV volumes than women did in the whole population, even after indexing to body surface area, and older individuals had smaller RV volumes. The normal RV volume was significantly smaller than that recommended by the American Society of Echocardiography/European Association of Cardiovascular Imaging guidelines in both sexes. There were significant differences in 3D-RV measurements between the two vendor ultrasound systems and the different software platforms. The echocardiographic measurements in normal Chinese adults II study revealed normal 3D-RV volume and function in a large Chinese population, and there were significant differences between the sexes, ages, races, and vendor groups. Thus, normal 3D-RV values should be stratified by sex, age, race, and vendor.

Background Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease (ASCVD). In addition to LDL-C, studies in experimental models and small clinical populations have suggested that other types of metabolic molecules might also be risk factors responsible for cardiovascular complications in HoFH, but definitive evidence from large-scale human studies is still lacking. Herein, we aimed to comprehensively characterize the metabolic features and risk factors of human HoFH by using metabolic systems strategies. Methods Two independent multi-center cohorts with a total of 868 individuals were included in the cross-sectional study. First, comprehensive serum metabolome/lipidome-wide analyses were employed to identify the metabolomic patterns for differentiating HoFH patients ( n = 184) from heterozygous FH (HeFH, n = 376) and non-FH ( n = 100) subjects in the discovery cohort. Then, the metabolomic patterns were verified in the validation cohort with 48 HoFH patients, 110 HeFH patients, and 50 non-FH individuals. Subsequently, correlation/regression analyses were performed to investigate the associations of clinical/metabolic alterations with typical phenotypes of HoFH. In the prospective study, a total of 84 HoFH patients with available follow-up were enrolled from the discovery cohort. Targeted metabolomics, deep proteomics, and random forest approaches were performed to investigate the ASCVD-associated biomarkers in HoFH patients. Results Beyond LDL-C, various bioactive metabolites in multiple pathways were discovered and validated for differentiating HoFH from HoFH and non-FH. Our results demonstrated that the inflammation and oxidative stress-related metabolites in the pathways of arachidonic acid and lipoprotein(a) metabolism were independently associated with the prevalence of corneal arcus, xanthomas, and supravalvular/valvular aortic stenosis in HoFH patients. Our results also identified a small marker panel consisting of high-density lipoprotein cholesterol, lipoprotein(a), apolipoprotein A1, and eight proinflammatory and proatherogenic metabolites in the pathways of arachidonic acid, phospholipid, carnitine, and sphingolipid metabolism that exhibited significant performances on predicting first ASCVD events in HoFH patients. Conclusions Our findings demonstrate that human HoFH is associated with a variety of metabolic abnormalities and is more complex than previously known. Furthermore, this study provides additional metabolic alterations that hold promise as residual risk factors in HoFH population.

Functional Analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of Evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity. is a marker of ischemic [interquartile range], categorical variables are presented as %. Two-tailed Student’s t test or Mann Whitney U test were used for continuous data in comparison of true homozygosity and compound heterozygosity. One-way ANOVA or Kruskal Wallis test were used for continuous data in comparison of defective/defective, null/defective, and null/null groups. The Chi-square test was used for categorical data. CVD, cardiovascular disease; LLT, lipid-lowering therapy; LDL-C, low-density lipoprotein cholesterol; TC, total cholesterol; TG, triglycerides; HDL-C, high-density lipoprotein cholesterol; APOB, apolipoprotein B; Lp(a), lipoprotein (a).

Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations. LDLR genotype is commonly known to determine blood concentrations of LDL cholesterol. However, effects of LDLR genotype on holistic metabolome remain unclear. Herein, we present metabolomic, genetic, and clinical datasets from a large multi-center panel of 142 patients with LDLR-mutated HoFH. We found that true homozygotes and compound heterozygotes showed few differences in clinical and metabolomic phenotypes. Compared with defective/ defective mutation carriers, patients carrying one or two null mutation showed profound alterations in clinical laboratory lipids and serum cholesterol esters, lysophosphocholines, bile acids, and amino acids. Importantly, these altered metabolites are implicated in multiple biochemical reactions and associatedwith LDL cholesterol. This study extends the first map of different LDLR genotypes influencing the metabolome and suggests that the small-molecule metabolites serve as potential targets to mitigate the deleterious impact of LDLR mutations on HoFH.

BACKGROUND:There is a lack of large-scale data on the clinical and genotype characteristics of homozygous familial hypercholesterolemia (HoFH) patients in Asia. OBJECTIVE:To define the characteristics of phenotypic and genetic HoFH probands from mainland China. METHODS:We collected data from patients with suspected HoFH from ten clinical hospitals across mainland China from 2003 to 2019. Clinical data and DNA testing were obtained in all patients. The Kaplan-Meier method was used to generate survival curves, and the groups were compared with the log-rank test. RESULTS:A total of 108 unrelated probands with suspected HoFH (mean age 14.9 years) were included. The three most common variants were W483X (c.1448 G>A), A627T (c.1879 G>A), H583Y (c.1747 C>T). The majority (64.8%) were compound heterozygotes (n = 70), 23 (21.3%) were true HoFH patients. True HoFH showed higher LDL-C levels compared to compound HoFH (16.8±3.6 mmol/L vs. 15.0±3.1 mmol/L, P = 0.022). During follow-up, only 21.2% patients exhibited an LDL-C reduction of more than 50%. Kaplan-Meier analysis showed that the true HoFH probands had significantly worse survival rates compared to other genotype probands (13-year survival; 20.3% vs. 76.7%, respectively; P = 0.016). In addition, true HoFH shows that 2.8-fold (P = 0.022) increase any death and 3.0-fold (P = 0.023) increase cardiovascular death risk in relative to other FH. CONCLUSIONS:This report shows that HoFH has devastating consequences, and that patients are often only diagnosed after they have been exposed to severely elevated LDL-C for years. Systematic screening and early intensive treatment are an absolute requirement for these young individuals with HoFH.

目的 观察不同基因型β-谷固醇血症临床及超声表现.方法 回顾性分析37例经基因检测确诊的β-谷固醇血症患者,观察其临床表现、实验室检查结果、心脏及颈动脉超声表现.结果 37例中,32例(32/37,86.49％)主因黄色瘤就诊;28例(28/37,75.68％)三磷酸腺苷结合盒转运蛋白G5(ABCG5)基因突变、7例(7/37,18.92％)为三磷酸腺昔结合盒转运蛋白G8(ABCG8)基因突变、2例(2/37,5.41％)ABCG5和ABCG8基因双重杂合突变.全部患者总胆固醇、低密度脂蛋白胆固醇及菜籽固醇均明显升高.主要异常超声心动图表现包括瓣膜反流(16/37,43.24％)、肺动脉瓣狭窄(1/37,2.70％)、主动脉瓣钙化(2/37,5.41％)及主动脉窦管交界处钙化(2/37,5.41％),其中19例存在ABCG5突变(19/21,90.48％).8例(8/37,21.62％)颈动脉超声显示颈动脉粥样硬化斑块,其中7例(7/8,87.50％)ABCG5突变、3例伴颈动脉内-中膜增厚.结论 β-谷固醇血症多表现为黄色瘤、血脂和血植物固醇水平升高;超声可见心脏瓣膜损害及动脉粥样硬化等心血管损伤,尤其在ABCG5突变患者.

BACKGROUND:Although transcatheter aortic valve implantation (TAVI) is a safe and effective treatment for aortic stenosis, it still carries some risks, such as valve leaks, stroke, and even death. The left ventricular global longitudinal strain (LVGLS) measurement may be useful for the prediction of adverse events during this operation.AIM:To explore the change of LVGLS during TAVI procedure and the relationship between LVGLS and perioperative adverse events.METHODS:In this study, 61 patients who had undergone percutaneous transfemoral TAVI were evaluated by transthoracic echocardiography. Before surgery, data on left ventricular ejection fraction (LVEF) and LVGLS were collected separately following balloon expansion and stent implantation. Difference in values of LVGLS and LVEF during preoperative balloon expansion (pre-ex), preoperative stent implantation (pre-im) and balloon expansion-stent implantation (ex-im) were also examined. Adverse events were defined as perioperative death, cardiac rupture, heart arrest, moderate or severe perivalvular leakage, significant mitral regurgitation during TAVI, perioperative moderate or severe mitral regurgitation, perioperative left ventricular outflow tract obstruction, reoperation, and acute heart failure.RESULTS:The occurrence of perioperative adverse events was associated with differences in pre-ex LVGLS, but not with difference in pre-ex LVEF. There were significant differences between pre-LVGLS and ex-LVGLS, and between pre-LVGLS and im-LVGLS (P = 0.037 and P = 0.020, respectively). However, differences in LVEF were not significant (P = 0.358, P = 0.254); however differences in pre-ex LVGLS were associated with pre-LVGLS (P = 0.045). Compared to LVEF, LVGLS is more sensitive as a measure of left heart function during TAVI and the perioperative period. Moreover, the differences in LVGLS were associated with the occurrence of perioperative adverse events, and changes in LVGLS were apparent in patients with undesirable LVGLS before the surgery. Furthermore, LVGLS is useful to predict changes in cardiac function during TAVI.CONCLUSION:Greater attention should be paid to the patients who plan to undergo TAVI with normal LVEF but poor LVGLS.

β-谷固醇血症(Beta-sitosterolemia,STSL,OMIM#210250),也称为植物固醇血症,是一种罕见的常染色体隐性遗传的脂质代谢性疾病.既往认为ABCG5和ABCG5两个基因纯合或复合杂合突变是STSL的发病基础[1].Tada等[2]最近报道了由ABCG5和ABCG5基因双重杂合突变引起的谷固醇血症的病例.STSL的临床表现从完全无症状到多器官系统受累,使临床医生难以诊断,其最显著的表现是血浆植物固醇(谷固醇、菜油固醇、豆固醇等)明显升高,可达到正常范围的30～100倍.部分STSL患者表现为严重的高胆固醇血症、早发动脉粥样硬化甚至出现心源性死亡[3-4].早期诊断和治疗干预对于避免危及生命的心血管事件至关重要.

Background: In recent years, two-dimensional speckle tracking echocardiography (2D-STE) has been increasingly used to detect left ventricular myocardial ischemia with high accuracy for a reliable and comprehensive assessment of myocardial function by myocardial strain analysis. The present study aimed to assess whether the longitudinal strain (LS) bull’s eye plot could accurately detect left ventricular myocardial ischemia in homozygous familial hypercholesterolemia (HoFH) patients. Methods: A total of 28 HoHF patients, who underwent 2D-STE and myocardial perfusion imaging (MPI), were classified into two groups as diagnosed by MPI for myocardial ischemia. The myocardial ischemia score by MPI, LS bull’s-eye plot, and strain parameters were analyzed and compared. Results: Among the 28 HoFH patients, MPI detected 30.77% and 2D-STE showed 30.19% ischemic segments in 13 and 15 HoFH patients with myocardial ischemia, respectively. All segmental LSs in the left anterior descending artery (LAD) perfusion territory were significantly decreased in patients with myocardial ischemia. The diagnostic capability of 2D-STE for myocardial ischemia was 85.29%, 95.34%, and 93.91% for sensitivity, specificity and accuracy, respectively. Conclusion: Left ventricular LS bull’s-eye plot can assist rapid and accurate evaluation of myocardial ischemia in HoFH patients. The myocardial ischemia is mainly distributed in the LAD perfusion territory in these patients.

Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening genetic disorder characterized by an extremely elevated serum level of low-density lipoprotein cholesterol (LDL-C) and accelerated premature atherosclerotic cardiovascular diseases (ASCVD). However, the detailed mechanism of how the pathogenic mutations of HoFH trigger the acceleration of ASCVD is not well understood. Therefore, we performed high-throughput RNA and small RNA sequencing on the peripheral blood RNA samples of six HoFH patients and three healthy controls. The gene and miRNA expression differences were analyzed, and seven miRNAs and six corresponding genes were screened out through regulatory network analysis. Validation through quantitative PCR of genes and miRNAs from 52 HoFH patients and 20 healthy controls revealed that the expression levels of hsa-miR-486-3p, hsa-miR-941, and BIRC5 were significantly upregulated in HoFH, while ID1, PLA2G4C, and CACNA2D2 were downregulated. Spearman correlation analysis found that the levels of ID1, hsa-miR-941, and hsa-miR-486-3p were significantly correlated with additional ASCVD risk factors in HoFH patients. This study represents the first integrated analysis of transcriptome and miRNA expression profiles in patients with HoFH, a rare disease, and as a result, six differentially expressed miRNAs/genes that may be related to atherosclerosis in HoFH are reported. The miRNA-mRNA regulatory network may be the critical regulation mechanism by which ASCVD is accelerated in HoFH.

BACKGROUND:The aim of this study is to test if the newly proposed 45 mm size criterion for ascending aortic replacement (AAR) in bicuspid aortic valve (BAV) patients undergoing aortic valve replacement (AVR) is predictive of improved early outcomes. METHODS:Data of 306 BAV patients with an aortic diameter of ≥45 mm undergoing AVR alone or with AAR were retrospectively analyzed. Patients were divided into groups of AVR + AAR (n = 220) and AVR only (n = 86) based on if surgery was performed according to the 45 mm criterion. End point was early adverse events, including 30-day and in-hospital mortality, cardiac events, acute renal failure, stroke, and reoperation for bleeding. Cox regression was used to assess if conformance to 45 mm criterion could predict fewer early adverse events. RESULTS:AVR + AAR group had significantly higher postoperative left ventricular ejection fraction (LVEF) (0.59 ± 0.09 vs. 0.55 ± 0.11, p = 0.006) and longer cardiopulmonary bypass (CPB) time (128 vs. 111 minutes, p = 0.002). Early adverse events occurred in 45 patients (14.7%), which was more prevalent in the AVR-only group (22.1% vs. 11.8%, p = 0.020). Conformance to the 45 mm criterion predicted lower rate of early adverse events (hazard ratio [HR]: 0.53, 95% confidence interval [CI]: 0.28-0.98, p = 0.042). After adjustment for gender, age, AAo diameter, sinuses of Valsalva diameter, preoperative LVEF, Sievers subtypes, BAV valvulopathy, and CPB and cross-clamp times, conformance to the 45 mm size criterion still predicted lower incidence of early adverse events (HR: 0.37, 95% CI: 0.15-0.90, p = 0.028). CONCLUSIONS:This study shows that conformance to 45 mm size cutoff for preemptive AAR during aortic valve replacement in patients with BAV was not associated with increased risk for adverse events and may improve early surgical outcomes.

目的 探讨分层应变技术评估纯合子型家族性高胆固醇血症(HoFH)发生主动脉瓣上狭窄(SVAS)患者左心室功能的价值.方法 入选确诊的HoFH患者57例,根据超声结果将其分为SVAS组(25例)和非SVAS组(32例).采用EchoPAC软件获得左心室心内膜层整体纵向应变(GLSendo)、中层心肌整体纵向应变(GLSmyo)和心外膜层整体纵向应变(GLSepi)等指标进行统计学分析.分析两组患者心肌分层应变参数的变化.结果 SVAS 组及非 SVAS 组 GLSendo、GLSmyo、GLSepi 呈梯度递减(P＜0.05);SVAS 组 GLSendo、GLSmyo及 GLSe-pi 显著低于非 SVAS 组,差异有统计学意义(P＜0.05).结论 心肌分层应变可早期准确评估HoFH患者发生SVAS左心室功能变化.

BACKGROUND:Coronary flow velocity reserve (CFVR) can provide useful quantitative information on the functional status of coronary artery circulation, and an impaired CFVR (< 2.0) was associated with a significant increase in the occurrence of cardiac events. Coronary artery disease (CAD) is the leading cause of death in homozygous familial hypercholesterolemia (HoFH), but the relationship between impaired CFVR and outcome in HoFH has never been discussed before METHODS: To explore the long-term prognostic value of CFVR in patients with HoFH, 39 HoFH patients with CFVR data (mean age with 16.7 years) were enrolled from the Genetic and Imaging of Familial Hypercholesterolemia in Han Nationality Study. All patients were divided into impaired CFVR (CFVR < 2.0, n = 17) and preserved CFVR (CFVR≥2.0, n = 22) group. Follow-up was performed until a major adverse cardiac event (MACE) occurred or up to June 30, 2020 RESULTS: During a median follow-up of 89 months, 16 events were registered, 12 of which were occurred in the impaired CFVR group and four occurred in the preserved CFVR group. The event-free survival rate of impaired CFVR group was significantly lower than that in the preserved CFVR group (29.4% vs 81.8%, P < .001), and CFVR < 2.0 was independently associated with prognosis before and after adjustment for related risk factors (HR 5.197, 95% CI 1.669 to 16.178, P = .004 and HR 5.488, 95% CI 1.470 to 20.496, P = .011, respectively) CONCLUSIONS: an impaired CFVR predicts a worse outcome in HoFH. CFVR shows an independent value in the prediction of long-term outcome in HoFH.

Patients with homozygous familial hypercholesterolemia (HoFH) have a high risk for premature death. Supravalvular aortic stenosis (SVAS) is a common and the feature lesion of the aortic root in HoFH. The relation between SVAS and the risk of premature death in patients with HoFH has not been fully investigated. The present study analysis included 97 HoFH patients with mean age of 14.7 (years) from the Genetic and Imaging of Familial Hypercholesterolemia in Han Nationality Study. During the median (±SD) follow-up 4.0 (±4.0) years, 40 (41.2%) participants had SVAS and 17 (17.5%) participants experienced death. The proportion of premature death in the non-SVAS and SVAS group was 7.0% and 32.5%, respectively. Compared with the non-SVAS group, SVAS group cumulative survival was lower in the HoFH (log-rank test, p <0.001). This result was further confirmed in the multivariable Cox regression models. After adjusting for age, sex, low density lipoprotein cholesterol (LDL_C)-year-score, lipid-lowering drugs, cardiovascular disease, and carotid artery plaque, SVAS was an independent risk factor of premature death in HoFH on the multivariate analysis (hazard ratio 4.45; 95% confidence interval, 1.10 to 18.12; p = 0.037). In conclusion, a significantly increased risk of premature death was observed in HoFH patients with SVAS. Our study emphasized the importance of careful and aggressive management in these patients when appropriate.

Abstract Objective: The study aimed to investigate the treatment pattern and economic burden of homozygous familial hypercholesterolemia (HoFH) in China, and to evaluate the incidence rate of catastrophic health expenditure (CHE) of HoFH patients and their families.Methods: Patients with HoFH diagnosed and treated in Beijing An’Zhen Hospital was included. A questionnaire was developed to investigate and capture the relevant variables of the participants.Results: A total of 120 HoFH patients were investigated, and the number of children (age under 18) was 1.2 times more than adults (age above 18). There were 113 patients with basic medical insurance (including 61 patients with new rural cooperative medical insurance), 4 patients with commercial insurance and 3 patients without any insurance. There were 35 patients with atherosclerotic cardiovascular disease (ASCVD), including 29 adults and 6 children. Only 6 pediatric patients achieved their low-density lipoprotein cholesterol (LDL-C) treatment targets, and all 54 adult patients did not achieve it. The most commonly used treatment method was diet control with lipid-lowering drugs (16.67%), followed by diet control and lipid-lowering drugs using separately (16.67%). The proportion of patients whose annual personal income reached GDP per capita in 2019 was only 2.5%. The total economic burden of disease was 5,529,100 CNY / year, including direct medical costs of 3,427,200 CNY / year, direct non-medical costs of 1,504,500 CNY / year and indirect costs of 611,300 CNY / year; the per capita economic burden of disease was 46,100 CNY / year, including direct medical costs of 28,600 CNY / year, direct non-medical costs of 12,500 CNY / year and indirect costs of 5,100 CNY / year. There were 32 families with CHE due to the disease, accounting for 26.67%.Conclusion: Patients with HoFH in China are generally at young age, and the economic burden of disease for the family is heavy. The existing treatment is not effective, and it is easy to cause premature death due to ASCVD.

Myocardial ischemia and left ventricular dysfunction have been documented in young adults with familial hypercholesterolemia. We investigated whether speckle-tracking echocardiography can be used to detect subclinically impaired global and regional myocardial function in patients with this lipid disorder. This single-center study included 47 patients with familial hypercholesterolemia and 37 healthy control subjects who underwent transthoracic Doppler echocardiography and speckle-tracking echocardiography from January 2003 through December 2016. Conventional echocardiographic and strain parameters in the 2 groups were analyzed and compared. Left ventricular dimensions were significantly larger at end-diastole (P=0.02) and end-systole (P=0.013), left ventricular walls were significantly thicker (P <0.0001), and the early transmitral/early diastolic mitral annular velocity ratio was significantly higher (P=0.006) in the patient group than in the control group. In the patient group, global longitudinal and circumferential strain values were significantly lower (P <0.0001) and global radial strain values significantly higher (P=0.006); all segmental longitudinal strain (P <0.04) and most segmental circumferential strain values (P ≤0.01) were significantly lower; and some segmental radial strains, especially at the apex, were significantly higher (P ≤0.04). However, average longitudinal, circumferential, and radial strains in the different segments of the 3 main coronary artery territories were significantly lower in the patient group (P <0.01). Global longitudinal strain (r=0.561; P=0.001) and global circumferential strain (r=0.565; P <0.0001) were inversely correlated with low-density-lipoprotein cholesterol levels. We conclude that speckle-tracking echocardiography can be used to detect subclinical global and regional systolic abnormalities in patients with familial hypercholesterolemia.

Sitosterolemia is a rare lipid metabolism disease with heterogeneous manifestations. Atherosclerosis can occur in children, and therefore, early detection, diagnosis, and treatment of this disease are important. We studied 18 pediatric patients with sitosterolemia who showed a significant increase in plasma lipid levels and analyzed their clinical, biochemical, and genetic characteristics. We recorded the initial serum lipid results and clinical manifestations of the patients. Lipid and plant sterol levels were measured after homozygous or compound heterozygous mutations of ABCG5 or ABCG8 were identified by genetic testing. Plasma plant sterol levels were analyzed by gas chromatography. Fourteen cases of sitosterolemia were examined by ultrasound and echocardiography. The initial total cholesterol and low-density lipoprotein levels of the children were significantly increased, but then markedly decreased after diet control or drug treatment, and even reached normal levels. Carotid atherosclerosis and aortic valve regurgitation were present in three of 14 patients. Serum lipid levels of children with sitosterolemia and xanthomas were notably higher than those without xanthomas. There were no significant differences in clinical manifestations between patients with different genotypes. In conclusion, sitosterolemia should be considered in children with hyperlipidemia who do not present with xanthomas, especially with a significant increase in total cholesterol and low-density lipoprotein levels. There does not appear to be a correlation between clinical phenotype and genotype.