Prevalence Of Familial Hypercholesterolemia Research Articles

Prevalence of familial hypercholesterolemia and coronary heart disease in a tertiary referral hospital in Lithuania

Prevalence of familial hypercholesterolemia and coronary heart disease in a tertiary referral hospital in Lithuania

Research Progress in the Clinical Treatment of Familial Hypercholesterolemia.

Familial hypercholesterolemia (FH) is an autosomal dominant inheritable disease with severe disorders of lipid metabolism. It is mainly marked by increasing levels of plasma total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), xanthoma, corneal arch, and early-onset coronary heart disease (CHD). The prevalence of FH is high, and it is dangerous and clinically underdiagnosed. The clinical treatment for FH includes both pharmacological and non-pharmacological treatment, of which non-pharmacological treatment mainly includes therapeutic lifestyle change and dietary therapy, LDL apheresis, liver transplantation and gene therapy. In recent years, many novel drugs have been developed to treat FH more effectively. In addition, the continuous maturity of non-pharmacological treatment techniques has also brought more hope for the treatment of FH. This paper analyzes the pathogenic mechanism and the progress in clinical treatment of FH. Furthermore, it also summarizes the mechanism and structure-activity relationship of FH therapeutic drugs that have been marketed. In a word, this article provides a reference value for the research and development of FH therapeutic drugs.

The impact of statins treatments for plaque characteristics in stable angina pectoris patients with very low and high low-density lipoprotein cholesterol levels: an intracoronary optical coherence tomography study.

Low-density lipoprotein cholesterol (LDL-C) levels are recommended according to the patient's risk factors based on guidelines. In patients achieving low LDL-C levels, the need for statins is uncertain, and the plaque characteristics of patients not treated with statins are unclear. In addition, the difference in plaque characteristics with and without statins is unclear in similarly high LDL levels. We evaluate the impact of statins on plaque characteristics on optical coherence tomography (OCT) in patients with very low LDL-C levels and high LDL-C levels. A total of 173 stable angina pectoris patients with 173 lesions undergoing OCT before percutaneous coronary intervention were evaluated. We divided the LDL-C levels into three groups: < 70mg/dL (n = 48), 70mg/dL ≤ LDL-C < 100mg/dL (n = 71), and ≥ 100mg/dL (n = 54). Among patients with LDL-C < 70mg/dL, patients not treated with statins showed a significantly higher C-reactive protein level (0.27 ± 0.22mg/dL vs. 0.15 ± 0.19mg/dL, p = 0.049), and higher incidence of thin-cap fibroatheromas (TCFAs; 44% [7/16] vs. 13% [4/32], p = 0.021) than those treated with statins. Among patients with LDL-C level ≥ 100mg/dL, patients treated with statins showed a significantly higher prevalence of familial hypercholesterolemia (FH) (38% [6/16] vs. 5% [2/38], p = 0.004), lower incidence of TCFAs (6% [1/16] vs. 39% [15/38], p = 0.013), healed plaques (13% [2/16] vs. 47% [18/38], p = 0.015), and higher incidence of fibrous plaques (75% [12/16] vs. 42% [16/38], p = 0.027) than patients not treated with statins. While patients achieved a low LDL-C, patients not treated with statins had high plaque vulnerability and high systemic inflammation. While patients had a high LDL-C level with a high prevalence of FH, patients treated with statins had stable plaque characteristics.

Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a retrospective observational study

ObjectivesPatients with familial hypercholesterolaemia (FH) are genetically burdened by a lifelong elevation of the low-density lipoprotein cholesterol (LDL-C) level, putting them at a very high risk of premature ischaemic heart...

Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study.

To investigate the prevalence of familial hypercholesterolaemia (FH) and compare the performance of clinical criteria and genetic testing in patients undergoing coronary angiography. The prevalence of FH was determined with the Dutch Lipid Clinical Network (DLCN), US-MEDPED, Simon Broome (SB) criteria, the 'Familial Hypercholesterolaemia Case Ascertainment Tool' (FAMCAT), and a clinical algorithm. Genetic screening was conducted with a custom array from Affymetrix (CARRENAL array) harboring 944 FH mutations. The study cohort consisted of 3267 patients (78.6% with coronary artery disease [CAD]). FH was diagnosed in 2.8%, 2.2%, 3.9%, and 7.9% using the DLCN, US-MEDPED, SB criteria, and the FAMCAT. The clinical algorithm identified the same patients as the SB criteria. Pathogenic FH mutations were found in 1.2% (1.2% in patients with CAD, 1.0% in patients without CAD). FH was more frequently diagnosed in younger patients. With genetic testing as reference, the clinical criteria achieved areas under the ROC curve (AUCs) in the range of 0.56-0.68. Using only LDL-C corrected for statin intake, an AUC of 0.68 was achieved. FH is up to fourfold more prevalent in patients undergoing coronary angiography than in contemporary cohorts representing the general population. Different clinical criteria yield substantially different diagnosis rates, overestimating the prevalence of FH compared to genetic testing. LDL-C testing alone may be sufficient to raise the suspicion of FH, which then needs to be corroborated by genetic testing.

Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.

Little data exists for evaluating the prevalence and patient characteristics of familial hypercholesterolemia (FH) according to the latest 2022 guidelines for FH published by the Japan Atherosclerosis Society (JAS), which revised the Achilles tendon thickness (ATT) threshold from 9.0 mm in both sexes to 8.0 mm in men and 7.5 mm in women. This study used a nationwide registry of patients with acute coronary syndrome (ACS) to evaluate the prevalence of FH according to the latest diagnostic criteria for FH and to investigate the application of Achilles tendon imaging in the diagnosis of FH.A previous prospective observational study at 59 Japanese centers involving consecutive patients with ACS who were managed between April 2015 and August 8, 2016 was conducted to explore lipid management and persistent risk in patients hospitalized for ACS (EXPLORE-J). The study population consisted of 1,944 EXPLORE-J enrollees. According to the diagnostic criteria for FH in the 2022 JAS guidelines, the prevalence of probable or definite was among patients with ACS was 6.6% (127/1944). Among patients with premature ACS (male, age ＜55 years; female, age ＜65 years), the prevalence of FH was 10.1% (43/427). The mean ages were of the probable FH and definite FH groups were 59.9 and 61.0 years, respectively, while the mean age of the possible-or-unlikely FH group was 66.4 years (significantly older). Relative to the possible-or-unlikely FH group, the low-density lipoprotein cholesterol (LDL-C) levels were similar in the probable FH group and and significantly higher in the definite FH group. The prevalence of FH was considerably higher than previously reported, especially for patients with premature ACS. The age and LDL-C levels of the patients in the probable FH and definite FH groups were similar.

Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank

Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank

Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.

Familial hypercholesterolemia (FH) is defined as a monogenic disease, characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. FH remains underdiagnosed and undertreated in Chinese. We whole-genome sequenced 6820 newborns from Qingdao of China to investigate the FH-related gene (LDLR, APOB, PCSK9) mutation types, carrier ratio and genotype-phenotype correlation. In this study, the prevalence of FH in Qingdao of China was 0.47% (95% CI: 0.32%-0.66%). The plasma lipid levels of FH-related gene mutation carriers begin to increase as early as infant. T-CHO and LDL-C of FH infants was higher by 48.1% (p < 0.001) and 42.9% (p < 0.001) relative to non-FH infants. A total of 22 FH infants and their parent participate in further studies. The results indicated that FH infant parent noncarriers have the normal plasma lipid level, while T-CHO and LDL-C increased in FH infants and FH infant parent carriers, but no difference between the groups. This highlights the importance of genetic factors. In conclusion, the spectrum of FH-causing mutations in the newborns of Qingdao, China was described for the first time. These data can serve as a considerable dataset for next-generation sequencing analysis of the Chinese population with FH and potentially helping reform regional policies for early detection and prevention of FH.

Assessment of ethnic inequalities in diagnostic coding of familial hypercholesterolaemia (FH): A cross-sectional database study in Lambeth, South London

Background and aimsDifferences in the perceived prevalence of familial hypercholesterolemia (FH) by ethnicity are unclear. In this study, we aimed to assess the prevalence, determinants and management of diagnostically-coded FH in an ethnically diverse population in South London. MethodsA cross-sectional analysis of 40 practices in 332,357 adult patients in Lambeth was undertaken. Factors affecting a (clinically coded) diagnosis of FH were investigated by multi-level logistic regression adjusted for socio-demographic and lifestyle factors, co-morbidities, and medications. ResultsThe age-adjusted FH % prevalence rate (OR, 95%CI) ranged from 0.10 to 1.11, 0.00–1.31. Lower rates of FH coding were associated with age (0.96, 0.96–0.97) and male gender (0.75, 0.65–0.87), p < 0.001. Compared to a White British reference group, a higher likelihood of coded FH was noted in Other Asians (1.33, 1.01–1.76), p = 0.05, with lower rates in Black Africans (0.50, 0.37–0.68), p < 0.001, Indians (0.55, 0.34–0.89) p = 0.02, and in Black Caribbeans (0.60, 0.44–0.81), p = 0.001. The overall prevalence using Simon Broome criteria was 0.1%; we were unable to provide ethnic specific estimates due to low numbers.Lower likelihoods of FH coding (OR, 95%CI) were seen in non-native English speakers (0.66, 0.53–0.81), most deprived income quintile (0.68, 0.52–0.88), smokers (0.68,0.55–0.85), hypertension (0.62, 0.52–0.74), chronic kidney disease (0.64, 0.41–0.99), obesity (0.80, 0.67–0.95), diabetes (0.31, 0.25–0.39) and CVD (0.47, 0.36–0.63). 20% of FH coded patients were not prescribed lipid-lowering medications, p < 0.001. ConclusionsInequalities in diagnostic coding of FH patients exist. Lower likelihoods of diagnosed FH were seen in Black African, Black Caribbean and Indian ethnic groups, in contrast to higher diagnoses in White and Other Asian ethnic groups. Hypercholesterolaemia requiring statin therapy was associated with FH diagnosis, however, the presence of cardiovascular disease (CVD) risk factors lowered the diagnosis rate for FH.

Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome

&amp;lt;p&amp;gt;&amp;lt;strong&amp;gt;Aim &amp;lt;br /&amp;gt;&amp;lt;/strong&amp;gt;To investigate the prevalence of familial hypercholesterolemia in patients with acute coronary syndrome (ACS).&amp;lt;br /&amp;gt;&amp;lt;strong&amp;gt;Methods&amp;lt;/strong&amp;gt; &amp;lt;br /&amp;gt;The study included fifteen patients with first or repeated ACS and treated/nontreated dyslipidaemia admitted to the Department of Cardiovascular Diseases of Clinical Hospital Centre Osijek between 1 January 2020 and 1 January 2021. The cut-off value of low-density lipoprotein (LDL)-C was 4.5mmol/L as a possible cut-off value for familial hypercholesterolemia presence. Data were collected from medical history and during patient&amp;amp;rsquo;s follow-up.&amp;lt;br /&amp;gt;&amp;lt;strong&amp;gt;Results&amp;lt;/strong&amp;gt; &amp;lt;br /&amp;gt;Included patients that fulfilled criteria were predominantly male &amp;amp;ndash; 14 (93%), mean age 61 years. The median level of LDL cholesterol at admission because of ACS was 5.14 mmol/L, whereas the follow-up level after one year was 2.27 mmol/L (p=0.001). At first follow-up, 7 (46%) patients were treated with atorvastatin 80 mg or rosuvastatin 40 mg, 3 (20%) atorvastatin 80mg + ezetimibe 10mg, 2 (13%) with rosuvastatin 40 mg+ ezetimibe 10 mg, other patients were treated with a lower dose of statin or ezetimibe. According to LDL-C profile and by calculating the&amp;lt;br /&amp;gt;Dutch Lipid Clinic Network Score, one (of 15) patient was categorized as having definite familial hypercholesterolemia and two (of 15) as having probable familial hypercholesterolemia leading to the use of triple hypolipidemic therapy (statin+ezetimibe+PCSK9 inhibitor) in 2 (13%) patients (one female and one male).&amp;lt;br /&amp;gt;&amp;lt;strong&amp;gt;Conclusion&amp;lt;/strong&amp;gt; &amp;lt;br /&amp;gt;LDL-C level of 4.5 mmol/L and higher represents an indication for screening for familial hypercholesterolemia in patients with ACS. The prevalence of familial hypercholesterolemia in ACS, estimated by the Dutch Lipid Clinic Network Score, could be higher than previously reported.&amp;lt;/p&amp;gt;

Familial hypercholesterolemia is related to cardiovascular disease, heart failure and atrial fibrillation. Results from a population-based study.

Familial hypercholesterolemia (FH) is associated with atherosclerotic cardiovascular disease (ASCVD). However, the prevalence of FH among a general population remains unknown, and it is unclear if FH is associated with other cardiovascular complications, including heart failure (HF) and atrial fibrillation (AF). Analyses were conducted on individuals without a prior history of cardiovascular disease using a nationwide health claims database collected in the JMDC Claims Database between 2005 and 2022 (n = 4,126,642; median age, 44 years; 57.5% men). We defined FH as either LDL cholesterol ≥250 mg/dL or LDL cholesterol ≥175 mg/dL under the lipid-lowering medications under the assumption that lipid-lowering medications reduced LDL cholesterol by 30%. We assessed the associations between FH and composite outcomes, including, ASCVD (myocardial infarction, angina pectoris, and stroke), HF, and AF using Cox proportional hazard model. We identified 11,983 (.29%) FH patients. In total, 181,150 events were recorded during the mean follow-up period of 3.5 years. The status FH was significantly associated with composite outcomes after adjustments (hazard ratio [HR]; 1.38, 95% confidence interval [CI]: 1.30-1.47, p < .001). Interestingly, the status FH was significantly associated with HF (HR: 1.48, 95% CI: 1.36-1.61, p < .001) and AF (HR: 1.33, 95% CI: 1.08-1.64, p < .001) in addition to angina pectoris (HR: 1.45, 95% CI: 1.33-1.58, p < .001) and stroke (HR: 1.19, 95% CI: 1.04-1.36, p < .001). We found that the prevalence of FH was .29% in a general population. FH was significantly associated with a higher risk of developing cardiovascular disease, HF and AF. We sought to identify the prevalence of FH among a general population, and to clarify whether FH increases the risk of not only ASCVD but also HF and AF.

Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.

Familial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature coronary heart disease. The prevalence of FH-causing variants and their association with LDL-C in non-European populations remains largely unknown. Using DNA diagnosis in a population-based cohort, we aimed to estimate the prevalence of FH across 3 major ancestry groups in the United Kingdom. Principal component analysis was used to distinguish genetic ancestry in UK Biobank participants. Whole exome sequencing data were analyzed to provide a genetic diagnosis of FH. LDL-C concentrations were adjusted for statin use. Principal component analysis distinguished 140 439 European, 4067 South Asian, and 3906 African participants with lipid and whole exome sequencing data. There were significant differences between the 3 groups, including total and LDL-C concentrations, and prevalence and incidence of coronary heart disease. We identified 488, 18, and 15 participants of European, South Asian, and African ancestry carrying a likely pathogenic or pathogenic FH-variant. No statistical difference in the prevalence of an FH-causing variant was observed: 1 out of 288 (95% CI, 1/316-1/264) in European, 1 out of 260 (95% CI, 1/526-1/173) in African, and 1 out of 226 (95% CI, 1/419-1/155) in South Asian. Carriers of an FH-causing variant had significantly higher LDL-C concentration than noncarriers in every ancestry group. There was no difference in median (statin-use adjusted) LDL-C concentration in FH-variant carriers depending on their ancestry background. Self-reported statin use was nonsignificantly highest in FH-variant carriers of South Asian ancestry (55.6%), followed by African (40.0%) and European (33.8%; P=0.15). The prevalence of FH-causing variants in the UK Biobank is similar across the ancestry groups analyzed. Despite overall differences in lipid concentrations, FH-variant carriers across the 3 ancestry groups had similar LDL-C levels. In all ancestry groups, the proportion of FH-variant carriers treated with lipid-lowering therapy should be improved to reduce future risk of premature coronary heart disease.

Familial hypercholesterolaemia in UK primary care: a Clinical Practice Research Datalink study of an under-recognised condition.

Studies utilising genotyping methods report the prevalence of familial hypercholesterolaemia to be as high as one in 137 of the adult population. To estimate the prevalence of familial hypercholesterolaemia measured by clinically coded diagnosis, associated treatments, and lipid measurements observed in UK primary care. This was a retrospective analysis using the Clinical Practice Research Datalink (CPRD) GOLD database. Patients aged ≥18 years and actively registered on the index date (30 June 2018) formed the study cohort. Point prevalence of familial hypercholesterolaemia for 2018 was estimated overall and for each nation of the UK. Patients with familial hypercholesterolaemia were stratified into primary and secondary prevention groups, defined as those with/without a prior diagnosis of atherosclerotic cardiovascular disease. Prevalence estimates and extrapolations were replicated for these subgroups. Baseline demographic, lipid, and clinical characteristics for the prevalent cohort were presented. In total, 4048 patients with familial hypercholesterolaemia formed the study cohort. The estimated familial hypercholesterolaemia prevalence for the UK was 16.4 per 10 000 (95% confidence interval [CI] = 16.0 to 16.9). Of these, 2646 (65.4%) patients with familial hypercholesterolaemia had a recent prescription for lipid-lowering therapy. Mean lipid levels were lower for those treated with lipid-lowering therapy compared with those untreated: 5.34 mmol/L (SD 1.50) versus 6.25 mmol/L (SD 1.55) for total cholesterol and 3.15 mmol/L (SD 1.34) versus 3.96 mmol/L (SD 1.36) for low-level density lipoprotein cholesterol. The estimated prevalence of familial hypercholesterolaemia was one in 608 of the population, less than expected from other studies, which may indicate that familial hypercholesterolaemia is under-recognised in UK primary care. Over one-third of diagnosed patients were undertreated and many did not achieve target goals, placing them at risk of cardiovascular events.

A study on prevalence of familial hypercholesterolaemia (FH) in Sri Lanka: A multicenter study

A study on prevalence of familial hypercholesterolaemia (FH) in Sri Lanka: A multicenter study

Trends and hotspots in familial hypercholesterolemia: A bibliometric systematic review from 2002 to 2022.

We visually assessed the research hotspots of familial hypercholesterolemia (FH) using bibliometrics and knowledge mapping in light of the research state and development trend of FH. We employed bibliometric tools, such as CiteSpace and the alluvial generator, to illustrate the scientific accomplishments on FH by extracting pertinent literature on FH from the Web of Science Core Collection database from January 1, 2002, to December 31, 2022. A total of 4402 papers in total were selected for study; 29.2% of all articles globally were from the USA, followed by the Netherlands and England. The University of Amsterdam, University of Oslo, and University of Western Australia are the 3 institutions with the most publications in this area. Gerald F. Watts, Raul D. Santos, and John J. P. Kastelein wrote the majority of the pieces that were published. The New England Journal of Medicine, Circulation, and Atherosclerosis were the journals with the greatest number of papers in this field. Prevalence and genetic analysis of FH, proprotein convertase subtilisin/kexin 9 inhibitors, and inclisiran are current research hotspots for the condition. Future research in this area will be focused on gene therapy. FH research has shown shows a trend of ascending followed by leveling off. The prevalence and diagnosis of FH, proprotein convertase subtilisin/kexin 9 inhibitors, inclisiran, and gene therapy are current research hotspots. This report may serve as a reference for current research trends.

Prevalence of familial hypercholesterolemia in a country-wide laboratory network in Pakistan: 10-year data from 988, 306 patients

IntroductionFamilial hypercholesterolemia (FH) is a modifiable risk factor for premature coronary heart disease but is poorly diagnosed and treated. We leveraged a large laboratory network in Pakistan to study the prevalence, gender and geographic distribution of FH. MethodologyData were curated from the Aga Khan University Hospital clinical laboratories, which comprises of 289 laboratories and collection points spread over 94 districts. Clinically ordered lipid profiles from 1st January 2009 to 30th June 2018 were included and data on 1,542,281 LDL-C values was extracted. We used the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria to classify patients as FH and reported data on patients with low-density liporotein -cholesterol (LDL-C) ≥ 190 mg/dL. FH cases were also examined by their spatial distribution. ResultsAfter applying exclusions, the final sample included 988,306 unique individuals, of which 24,273 individuals (1:40) had LDL-C values of ≥190 mg/dL. Based on the MEDPED criteria, 2416 individuals (1:409) had FH. FH prevalence was highest in individuals 10–19 years (1:40) and decreased as the patient age increased. Among individuals ≥40 years, the prevalence of FH was higher for females compared with males (1:755 vs 1:1037, p < 0.001). Median LDL-C for the overall population was 112 mg/dL (IQR = 88-136 mg/dL). The highest prevalence after removing outliers was observed in Rajan Pur district (1.23% [0.70–2.10%]) in Punjab province, followed by Mardan (1.18% [0.80–1.70%]) in Khyber Pakhtunkhwa province, and Okara (0.99% [0.50–1.80%]) in Punjab province. ConclusionThere is high prevalence of actionable LDL-C values in lipid samples across a large network of laboratories in Pakistan. Variable FH prevalence across geographic locations in Pakistan may need to be explored at the population level for intervention and management of contributory factors. Efforts at early diagnosis and treatment of FH are urgently needed.

Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands

The prevalence of clinical familial hypercholesterolemia (FH) is very high in the Faroe Islands, but the possible causes are unknown. We aimed to describe potential genetic causes of FH in the Faroe Islands and to investigate whether levels of lipoprotein(a) and measures of dietary habits were associated with clinical FH in the Faroe Islands. In this case-control study, we identified potential clinical FH cases aged 18-75 years registered within a nationwide clinical laboratory database in the Faroe Islands and invited them for diagnostic evaluation according to clinical FH scoring systems. Controls were identified in the background population. Lipoprotein(a) was measured in plasma, while the fatty acid composition was determined in adipose tissue. The habitual diet of the participants was assessed using a food frequency questionnaire. Genetic testing for FH and polygenic variants was performed in a selection of clinical FH cases. A total of 121 clinical FH cases and 123 age- and sex-matched controls were recruited. We found a very low frequency of monogenic FH (2.5%), but a high level of polygenic FH (63%) in those genetically tested (67%). High levels of plasma lipoprotein(a) were associated with high odds of clinical FH. Clinical FH cases had a lower intake of saturated fatty acids (SFAs) measured by a high fat-score and a lower content of SFAs in adipose tissue compared with controls. The high prevalence of FH in the Faroe Islands may be due to polygenic causes of hypercholesterolemia and to a lesser extent other genetic factors and elevated plasma lipoprotein(a) levels.

Cross-checked screening application for reliable categorisation of familial hypercholesterolaemia: design and development of the prototype

The paper describes the development of a computer-based familial hypercholesterolemia (FH) screening application (FH CatScreen©). The application facilitates automatic scoring and categorisation of patients by medical practitioners based on four well-known FH diagnostic criteria. In the absence of a FH diagnostic criterion for Malaysian population, these four diagnostic criteria are commonly used criteria to classify patients FH severity levels to manage early interventions. We applied an adaptive software development approach comprising planning, development and validation phases to develop FH CatScreen©. A user study involving thirty medical practitioners was conducted to evaluate the effectiveness and usability of FH CatScreen©. The study showed that FH CatScreen© was able to provide a more correct, faster and better-informed assessment compared to the traditional paper-based method. The study further showed that FH CatScreen© has a good degree of performance and acceptance by the participants. The participants indicated that the simultaneous use of the four diagnostic criteria in FH CatScreen© has assisted them to compare the outcomes of each of the criterion side-by-side. It allowed them to decide on the severity of patient condition with high confidence. FH CatScreen© has demonstrated its expediency and efficacy in collecting the data on FH incidence and prevalence in Malaysia.

Estimating the Prevalence of Hypercholesterolemia in Indigenous Populations: A Systematic Review and Meta-Analysis

BackgroundHypercholesterolemia is a common condition characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of atherosclerotic cardiovascular disease (ASCVD). Indigenous populations experience disproportionate rates of ASCVD, however, the extent to which hypercholesterolemia contributes to this burden is unknown. ObjectivesThis study aimed to estimate the prevalence of hypercholesterolemia, severe hypercholesterolemia, and familial hypercholesterolemia (FH) in Indigenous populations in Canada, the United States, Australia, and New Zealand. MethodsWe searched MEDLINE, EMBASE, Web of Science, Native Health Database, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews for peer-reviewed studies reporting on hypercholesterolemia and elevated LDL-C in Indigenous populations. All diagnostic criteria used to classify hypercholesterolemia were included. Pooled prevalence and 95% CIs were calculated using a random-effects model. ResultsThere were no studies reporting the prevalence of FH and one study reporting the prevalence of severe hypercholesterolemia in Indigenous populations. The pooled prevalence of hypercholesterolemia was 28.9% or ∼1 in 3 to 1 in 4 individuals (95% CI: 22.4%-36.4%) and 12.6% (95% CI: 7.7%-19.9%) using an LDL-C cutoff of ≥3.5 mmol/L (135 mg/dL). The pooled prevalence in Indigenous populations in North America was 24.3% (95% CI: 17.1%-33.3%) compared with 40.0% (95% CI: 31.3%-49.3%) in Australia. Meta-regression showed diabetes had a significant effect on prevalence (P = 0.022). ConclusionsHypercholesterolemia is prevalent in Indigenous communities and may contribute to the high burden of ASCVD these populations face. There is insufficient research on FH and severe hypercholesterolemia in Indigenous populations worldwide.

Prevalence of familial hypercholesterolemia and its association with coronary artery disease: A Chinese cohort study.

Familial hypercholesterolemia (FH) is underrecognized, and its association with coronary artery disease (CAD) remains limited, especially in China. We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort. FH was defined using the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria. The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR) project during 2007-2008. The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up (2018-2020). Among 98,885 included participants, 190 participants were defined as FH. Crude and age-sex standardized prevalence and 95% confidence interval (CI) of FH were 0.19% (0.17%-0.22%) and 0.13% (0.10%-0.16%), respectively. The prevalence varied across age groups and peaked in the group of 60-<70 years (0.28%), and the peak prevalence (0.18%) in males was earlier, yet lower than the peak crude prevalence in females (0.41%). During a mean follow-up of 10.7 years, 2493 cases of incident CAD were identified. After multivariate adjustment, FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants. The prevalence of FH was estimated to be 0.19% in the participants, and it was associated with an elevated risk of incident CAD. Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.