Assessment Of The Prevalence Of Familial Hypercholesterolemia In Patients With Primary Hyperlipidemia In Moscow Lipid Clinic

2019 ◽  
Vol 287 ◽  
pp. e219
Author(s):  
M. Zubareva ◽  
T. Rozhkova ◽  
N. Gornyakova ◽  
P. Malyshev ◽  
I. Sergienko
Keyword(s):  
Familial Hypercholesterolemia ◽  
Lipid Clinic ◽  
Primary Hyperlipidemia

scholarly journals Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data

2021 ◽  
Vol 10 (4) ◽  
pp. 749
Author(s):  
Fernando Sabatel-Pérez ◽  
Joaquín Sánchez-Prieto ◽  
Víctor Manuel Becerra-Muñoz ◽  
Juan Horacio Alonso-Briales ◽  
Pedro Mata ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Diagnostic Yield ◽  
Low Density Lipoprotein ◽  
Analytical Data ◽  
Genetic Diagnosis ◽  
Density Lipoprotein ◽  
Screening Strategy ◽  
Cascade Screening ◽  
Active Screening ◽  
Lipid Clinic

The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (n = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (p < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.

Estimated Prevalence of Familial Hypercholesterolemia Among Egyptian Patients with Acute Coronary Syndromes; Analysis from The Cardiorisk Project

2021 ◽  
Vol 23 (Supplement_D) ◽  
Author(s):  
Ashraf Reda ◽  
Ahmed Bendary ◽  
Ahmed Shawky Elserafy ◽  
Elsayed Farag ◽  
Tamer Mostafa ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Acute Coronary Syndromes ◽  
Total Population ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Cross Sectional ◽  
Lipid Clinic ◽  
Egyptian Patients ◽  
Coronary Syndromes ◽  
Premature Cad

Abstract Aims The prevalence of familial hypercholesterolemia (FH) in Egypt is largely un- known. We aimed to estimate the prevalence of FH among 3224 Egyptian patients with acute coronary syndromes enrolled from 2015 to 2018 in the nationwide cross- sectional cardioRisk project. Methods and Results We applied the Dutch Lipid Clinic criteria for the diagnosis of FH on the available data recorded for the patients enrolled in the CardioRisk project. Two main criteria were applied: the presence of premature CAD (given 2 points in the Dutch criteria), and the categorized low density lipoprotein cholesterol (LDL-C) lev- els (given 1, 3, 5, or 8 points in the Dutch criteria according to the level). From a total of 3224 patients, 2743 patients had available LDL-C levels. Among those patients, when applying the abovementioned 2 criteria, we estimated that 472 patients had at least ‘possible’ FH (17.2% of the total population). Specifically, 4 patients had ‘defi- nite’ FH (0.1%), 7 patients had ‘probable’ FH (0.25%), and 461 patients had ‘possi- ble’ FH (16.8%). Conclusion The estimated prevalence of at least ‘possible’ FH among Egyptian patients with ACS is 17%.

Abstract 14681: Comparative Study Between International Guidelines in Detecting Pediatric Familial Hypercholesterolemia Through a Unique Community Health System in Kagawa, Japan

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Keiji Matsunaga ◽  
Asako Mizobuchi ◽  
Hayato Tada ◽  
Tsuyoshi Sasaki ◽  
Yoshihiro Asano ◽  
...  
Keyword(s):  
Health System ◽  
Community Health ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Hereditary Disease ◽  
International Guidelines ◽  
Number Of Children ◽  
Lipid Clinic ◽  
Lipid Screening

Introduction: Familial hypercholesterolemia (FH) is an autosomal hereditary disease found in patients who have elevated low-density lipoprotein cholesterol (LDL-C) from birth. Early detection and treatment of FH during childhood potentially reduces the risk of premature cardiovascular events. In Kagawa prefecture, a unique community health system, involving three steps, has been conducted to prevent lifestyle-related diseases for 10-year-old children. This system includes universal lipid screening, selection by pediatricians, and next-generation sequencing (NGS) of FH-related genes in hospitals. The aim of this study is to compare 3 international guidelines to detect pediatric FH with this unique community health system in Kagawa. Methods: In Kagawa prefecture, the universal lipid screening of approximately 8,000 children at 10 years of age is performed annually, covering over 90% of the target group. After excluding secondary hypercholesterolemia, pediatric clinics introduced children with LDL-C >140mg/dL to 4 designated hospitals to perform NGS. We applied the guidelines of the Dutch Lipid Clinic Network (DLCN), Simon Broome (SB), and the Japanese Atherosclerosis Society (JAS) to children who received NGS in the unique community health system in Kagawa. Results: We performed NGS for 46 children from January 2018 to February 2020 (LDL-C 186.0±50.3 mg/dL; Male/F 27/19) and 26 (57%) had FH genetic mutations (23 LDL-R and 3 PCSK9 mutations). Seventeen children met FH criteria for DLCN (35%), 10 for Simon Broome (22%), and 11 for JAS (24%), respectively. The combination of NGS and either of the 3 guidelines increased the number of children diagnosed as FH up to 31 (67%). Conclusion: International guidelines detected only half of pediatric FH who were diagnosed by the unique community health system in Kagawa. Further investigation will be required to build an effective universal screening system for pediatric FH.

Differences in phenotype, genotype and cardiovascular events between patients with probable and definite heterozygous familial hypercholesterolemia

2019 ◽  
Vol 16 (6) ◽  
pp. 467-478
Author(s):  
Ye-Xuan Cao ◽  
Bing-Yang Zhou ◽  
Di Sun ◽  
Sha Li ◽  
Yuan-Lin Guo ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cardiovascular Events ◽  
Oxidized Ldl ◽  
Low Density Lipoprotein ◽  
Survival Rates ◽  
Gene Mutations ◽  
Density Lipoprotein ◽  
Heterozygous Familial Hypercholesterolemia ◽  
Lipid Clinic ◽  
Kaplan Meier

Aim: To investigated the potential differences between probable and definite heterozygous familial hypercholesterolemia (HeFH) patients diagnosed by Dutch Lipid Clinic Network criteria. Methods: Clinical characteristics, lipid profile, severity of coronary artery stenosis and gene mutations were compared. Kaplan–Meier curve was performed to evaluate the cardiovascular events. Results: Overall, 325 participants were included and divided into two groups: probable (n = 233) and definite HeFH (n = 92). Definite HeFH patients had higher low-density lipoprotein cholesterol (LDL-C), oxidized-LDL and proprotein convertase subtilisin/kexin 9 levels, and higher prevalence of tendon xanthomas. The incidence of genetic mutations was statistically higher in definite HeFH than probable HeFH patients. The coronary stenosis calculated by Gensini score was statistically severer in definite HeFH patients. The best LDL-C threshold for predicting mutations was 5.14 mmol/l. Definite HeFH had lower event-free survival rates. Conclusion: Definite HeFH patients had higher severity of phenotype and genotype, and higher risk of cardiovascular events.

scholarly journals Lipoprotein(a) Is an Independent Risk Factor for Cardiovascular Disease in Heterozygous Familial Hypercholesterolemia

2005 ◽  
Vol 51 (11) ◽  
pp. 2067-2073 ◽  
Author(s):  
Daniel T Holmes ◽  
Brian A Schick ◽  
Karin H Humphries ◽  
Jiri Frohlich
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Risk Factor ◽  
Familial Hypercholesterolemia ◽  
Independent Risk Factor ◽  
Independent Predictor ◽  
Cvd Risk ◽  
Lipoprotein A ◽  
Heterozygous Familial Hypercholesterolemia ◽  
Lipid Clinic

Abstract Background: The role of lipoprotein(a) [Lp(a)] as a predictor of cardiovascular disease (CVD) in patients with heterozygous familial hypercholesterolemia (HFH) is unclear. We sought to examine the utility of this lipoprotein as a predictor of CVD outcomes in the HFH population at our lipid clinic. Methods: This was a retrospective analysis of clinical and laboratory data from a large multiethnic cohort of HFH patients at a single, large lipid clinic in Vancouver, Canada. Three hundred and eighty-eight patients were diagnosed with possible, probable, or definite HFH by strict clinical diagnostic criteria. Multivariate Cox regression analysis was used to study the relationship between several established CVD risk factors, Lp(a), and the age of first hard CVD event. Results: An Lp(a) concentration of 800 units/L (560 mg/L) or higher was a significant independent risk factor for CVD outcomes [hazard ratio (HR) = 2.59; 95% confidence interval (CI), 1.53–4.39; P &lt;0.001]. Other significant risk factors were male sex [HR = 3.19 (1.79–5.69); P &lt;0.001] and ratio of total to HDL-cholesterol [1.18 (1.07–1.30); P = 0.001]. A previous history of smoking or hypertension each produced HRs consistent with increased CVD risk [HR = 1.55 (0.92–2.61) and 1.57 (0.90–2.74), respectively], but neither reached statistical significance (both P = 0.10). LDL-cholesterol was not an independent predictor of CVD risk [HR = 0.85 (0.0.71–1.01); P = 0.07], nor was survival affected by the subcategory of HFH diagnosis (i.e., possible vs probable vs definite HFH). Conclusion: Lp(a) is an independent predictor of CVD risk in a multiethnic HFH population.

Incidence of cardiovascular disease among individuals with and without familial hypercholesterolemia attending a lipid clinic

2016 ◽  
Vol 252 ◽  
pp. e45
Author(s):  
F. Barkas ◽  
E. Klouras ◽  
T. Dimitriou ◽  
G. Liamis ◽  
M. Elisaf ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Familial Hypercholesterolemia ◽  
Lipid Clinic

scholarly journals Diagnosis Of Familial Hypercholesterolemia In The Clinical Practice: Performance Of Dutch Lipid Clinic Network Score

2019 ◽  
Vol 287 ◽  
pp. e69
Author(s):  
F. Bonaiti ◽  
M. Casula ◽  
E. Olmastroni ◽  
M. Averna ◽  
M. Arca ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Familial Hypercholesterolemia ◽  
Lipid Clinic ◽  
Practice Performance

scholarly journals Diagnosis of familial hypercholesterolemia in children: cascade screening from theory to practice

2020 ◽  
Vol 19 (3) ◽  
pp. 2348
Author(s):  
L. F. Galimova ◽  
D. I. Sadykova ◽  
E. S. Slastnikova ◽  
N. E. Usova
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cascade Screening ◽  
Clinical Hospital ◽  
Lipid Clinic ◽  
Targeted Screening ◽  
Adults And Children ◽  
The Republic ◽  
The City ◽  
Rule Out ◽  
Second Degree

Aim. To conduct a cascade screening and to assess its effectiveness in the diagnosis of familial hypercholesterolemia (FH) in children.Material and methods. The study was conducted from January 2017 to August 2018 on the basis of the City Clinical Hospital № 7 and the Children’s Republican Clinical Hospital (Kazan, the Republic of Tatarstan). It consisted of identifying index cases — primary patients with FH with further examination of first- and second-degree relatives <18 years old. In adults, the diagnosis was established according to Dutch Lipid Clinic Network (DLCN) criteria): FH was diagnosed with a score of ≥6. In children and adolescents <6 years of age, the Simon Broome Registry criteria were used.Results. During this period, 2542 case histories of patients with cardiovascular diseases were analyzed, of which 1220 people with a total cholesterol >5 mmol/L were selected. Next, a targeted screening was carried out aimed at the diagnosis of FH, as a result of which 61 index patients were identified. At the next stage, as a part of cascade screening, 87 first- and second-degree relatives <18 years old were examined. In 43 (49,4%) children, heterozygous HF was diagnosed, of which in 4 patients the disease was detected by re-examination after 1 year.Conclusion. Cascade screening is a necessary and effective method for the diagnosis of АР in first- and second-degree relatives <18 years old. All children of the index patients should be monitored or genetic testing necessary to rule out FH. Today, it is important to increase awareness among clinicians about the diagnosis of FH in adults and children.

scholarly journals Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Haochang Hu ◽  
Tian Shu ◽  
Jun Ma ◽  
Ruoyu Chen ◽  
Jian Wang ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
High Throughput Sequencing ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Bioinformatic Analysis ◽  
Genetic Mutations ◽  
Missense Mutations ◽  
Autosomal Dominant Disorder ◽  
Lipid Clinic

As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly caused by pathogenic mutations in lipid metabolism-related genes. The aim of this study is to investigate the genetic mutations in FH patients and verify their pathogenicity. First of all, a pedigree investigation was conducted in one family diagnosed with FH using the Dutch Lipid Clinic Network criteria. The high-throughput sequencing was performed on three family members to explore genetic mutations. The effects of low-density lipoprotein receptor (LDLR) variants on their expression levels and activity were further validated by silico analysis and functional studies. The results revealed that LDLC levels of the proband and his daughter were abnormally elevated. The whole-exome sequencing and Sanger sequencing were used to confirm that there were two LDLR missense mutations (LDLR c.226 G &gt; C, c.1003 G &gt; T) in this family. Bioinformatic analysis (Mutationtaster) indicated that these two mutations might be disease-causing variants. In vitro experiments suggested that LDLR c.226 G &gt; C and c.1003 G &gt; T could attenuate the uptake of Dil-LDL by LDLR. In conclusion, the LDLR c.226 G &gt; C and c.1003 G &gt; T variants might be pathogenic for FH by causing uptake dysfunction of the LDLR.

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