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Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.

ABSTRACT: OBJECTIVES:Heterozygous familial hypercholesterolaemia (FH) confers a significant risk for premature cardiovascular disease (CVD). However, the estimated prevalence of FH varies substantially among studies. We aimed to provide a summary estimate of FH prevalence in the general population and assess variations in frequency across different sociodemographic characteristics. SETTING, PARTICIPANTS AND OUTCOME MEASURES:We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO and PubMed for peer-reviewed literature using validated strategies. Results were limited to studies published in English between January 1990 and January 2017. Studies were eligible if they determined FH prevalence using clinical criteria or DNA-based analyses. We determined a pooled point prevalence of FH in adults and children and assessed the variation of the pooled frequency by age, sex, geographical location, diagnostic method, study quality and year of publication. Estimates were pooled using random-effects meta-analysis. Differences by study-level characteristics were investigated through subgroups, meta-regression and sensitivity analyses. RESULTS:The pooled prevalence of FH from 19 studies including 2 458 456 unique individuals was 0.40% (95% CI 0.29% to 0.52%) which corresponds to a frequency of 1 in 250 individuals. FH prevalence was found to vary by age and geographical location but not by any other covariates. Results were consistent in sensitivity analyses. CONCLUSIONS:Our systematic review suggests that FH is a common disorder, affecting 1 in 250 individuals. These findings underscore the need for early detection and management to decrease CVD risk.

SUBMITTER: Akioyamen LE

PROVIDER: S-EPMC5588988 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.

Akioyamen Leo E LE Genest Jacques J Shan Shubham D SD Reel Rachel L RL Albaum Jordan M JM Chu Anna A Tu Jack V JV

BMJ open 20170901 9

<h4>Objectives</h4>Heterozygous familial hypercholesterolaemia (FH) confers a significant risk for premature cardiovascular disease (CVD). However, the estimated prevalence of FH varies substantially among studies. We aimed to provide a summary estimate of FH prevalence in the general population and assess variations in frequency across different sociodemographic characteristics.<h4>Setting, participants and outcome measures</h4>We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, P ...[more]

PMID: 28864697

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Project description:BackgroundFamilial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery disease. Children with FH are subjected to early and enhanced atherosclerosis, leading to greater risk of coronary events, including premature coronary artery disease. To the best of our knowledge, this is the first report of a pair of monochorionic diamniotic identical twins with a diagnosis of heterozygous FH, resulting from mutations in both LDLR and ABCG8 genes.Case presentationThis is a rare case of a pair of 8-year-old monochorionic diamniotic identical twin, who on family cascade screening were diagnosed as definite FH, according to the Dutch Lipid Clinic Criteria (DLCC) with a score of 10. There were no lipid stigmata noted. Baseline lipid profiles revealed severe hypercholesterolaemia, (TC = 10.5 mmol/L, 10.6 mmol/L; LDL-c = 8.8 mmol/L, 8.6 mmol/L respectively). Their father is the index case who initially presented with premature CAD, and subsequently diagnosed as FH. Family cascade screening identified clinical FH in other family members including their paternal grandfather who also had premature CAD, and another elder brother, aged 10 years. Genetic analysis by targeted next-generation sequencing using MiSeq platform (Illumina) was performed to detect mutations in LDLR, APOB100, PCSK9, ABCG5, ABCG8, APOE and LDLRAP1 genes. Results revealed that the twin, their elder brother, father and grandfather are heterozygous for a missense mutation (c.530C > T) in LDLR that was previously reported as a pathogenic mutation. In addition, the twin has heterozygous ABCG8 gene mutation (c.55G > C). Their eldest brother aged 12 years and their mother both had normal lipid profiles with absence of LDLR gene mutation.ConclusionA rare case of Asian monochorionic diamniotic identical twin, with clinically diagnosed and molecularly confirmed heterozygous FH, due to LDLR and ABCG8 gene mutations have been reported. Childhood FH may not present with the classical physical manifestations including the pathognomonic lipid stigmata as in adults. Therefore, childhood FH can be diagnosed early using a combination of clinical criteria and molecular analyses.

Project description:BackgroundConsidering that many recent studies have reported the prevalence of familial multiple sclerosis (FMS), we performed an updated meta-analysis of the worldwide prevalence of FMS by the addition of recent publications.MethodsA search in PubMed, Scopus, the ISI Web of Science, and Google Scholar was undertaken up to 20 December 2020. The inclusion criteria were based on the CoCoPop approach (condition, context, and population). Meta-analysis of the qualified studies was conducted by comprehensive meta-analysis ver. 2 software.ResultsThe pooled prevalence of MS in relatives of 16,179 FMS cases was estimated to be 11.8% (95% CI: 10.7-13) based on a random-effects model. The pooled mean age of disease onset in adult probands was calculated to be 28.7 years (95% CI: 27.2 ± 30.2). Regarding 13 studies that reported the data of FMS in pediatrics (n = 877) and adults (n = 6636), the FMS prevalence in pediatrics and adults was 15.5% (95% CI: 13.8-17.4) and 10.8% (95% CI: 8.1-14.2), respectively. The prevalence of FMS in affected males (n = 5243) and females (n = 11,503) was calculated to be 13.7% (95% CI: 10.1-18.2) and 15.4% (95% CI: 10.3-22.4), respectively. The odds ratio of male/female in FMS cases was not statistically significant (OR = 0.9; 95% CI: 0.6-1.2, P = 0.55). Subgroup analysis demonstrated a significant difference in the prevalence of FMS between the geographical areas (P = 0.007). The meta-regression model indicated that the prevalence of FMS is lower with higher latitude and higher MS prevalence (P < 0.001). In contrast, meta-regression based on prevalence day was not statistically significant (P = 0.29).ConclusionsThe prevalence of FMS is higher in the pediatric group than that of adults, distinct between geographical areas, and diminishes with the increment of MS prevalence and latitude. Also, the symptoms initiate relatively at younger ages in the FMS cases. Interestingly, our analysis unveiled that FMS is not more prevalent in men than women and the risk of MS development in relatives is not higher when the affected proband is male.

Project description:BackgroundTargeted public health response to obesity in Nigeria is relatively low due to limited epidemiologic understanding. We aimed to estimate nationwide and sub-national prevalence of overweight and obesity in the adult Nigerian population.MethodsMEDLINE, EMBASE, Global Health, and Africa Journals Online were systematically searched for relevant epidemiologic studies in Nigeria published on or after 01 January 1990. We assessed quality of studies and conducted a random-effects meta-analysis on extracted crude prevalence rates. Using a meta-regression model, we estimated the number of overweight and obese persons in Nigeria in the year 2020.ResultsFrom 35 studies (n = 52,816), the pooled crude prevalence rates of overweight and obesity in Nigeria were 25.0% (95% confidence interval, CI: 20.4-29.6) and 14.3% (95% CI: 12.0-15.5), respectively. The prevalence in women was higher compared to men at 25.5% (95% CI: 17.1-34.0) versus 25.2% (95% CI: 18.0-32.4) for overweight, and 19.8% (95% CI: 3.9-25.6) versus 12.9% (95% CI: 9.1-16.7) for obesity, respectively. The pooled mean body mass index (BMI) and waist circumference were 25.6 kg/m2 and 86.5 cm, respectively. We estimated that there were 21 million and 12 million overweight and obese persons in the Nigerian population aged 15 years or more in 2020, accounting for an age-adjusted prevalence of 20.3% and 11.6%, respectively. The prevalence rates of overweight and obesity were consistently higher among urban dwellers (27.2% and 14.4%) compared to rural dwellers (16.4% and 12.1%).ConclusionsOur findings suggest a high prevalence of overweight and obesity in Nigeria. This is marked in urban Nigeria and among women, which may in part be due to widespread sedentary lifestyles and a surge in processed food outlets, largely reflective of a trend across many African settings.KEY MESSAGESAbout 12 million persons in Nigeria were estimated to be obese in 2020, with prevalence considerably higher among women. Nutritional and epidemiological transitions driven by demographic changes, rising income, urbanization, unhealthy lifestyles, and consumption of highly processed diets appear to be driving an obesity epidemic in the country.

Project description:AimTo evaluate the effect of alirocumab on frequency of standard apheresis treatments [weekly or every 2 weeks (Q2W)] in heterozygous familial hypercholesterolaemia (HeFH).Methods and resultsODYSSEY ESCAPE (NCT02326220) was a double-blind study in 62 HeFH patients undergoing regular weekly or Q2W lipoprotein apheresis. Patients were randomly assigned (2:1, respectively) to receive alirocumab 150 mg (n = 41) or placebo (n = 21) Q2W subcutaneously for 18 weeks. From day 1 to week 6, apheresis rate was fixed according to the patient's established schedule; from weeks 7 to 18, apheresis rate was adjusted based on the patient's low-density lipoprotein cholesterol (LDL-C) response in a blinded fashion. Apheresis was not performed when the LDL-C value was ≥30% lower than the baseline (pre-apheresis) value. The primary efficacy endpoint was the rate of apheresis treatments over 12 weeks (weeks 7-18), standardized to number of planned treatments. In the alirocumab group the least square (LS) mean ± SE (95% confidence interval [CI]) per cent change in pre-apheresis LDL-C from baseline at week 6 was -53.7 ± 2.3 (-58.2 to - 49.2) compared with 1.6 ± 3.1 (-4.7 to 7.9) in the placebo group. The primary efficacy endpoint showed statistically significant benefit in favour of alirocumab (Hodges-Lehmann median estimate of treatment difference: 0.75; 95% CI 0.67-0.83; P < 0.0001). Therefore, alirocumab-treated patients had a 0.75 (75%) additional reduction in the standardized rate of apheresis treatments vs. placebo-treated patients. During this period, 63.4% of patients on alirocumab avoided all and 92.7% avoided at least half of the apheresis treatments. Adverse event rates were similar (75.6% of patients on alirocumab vs. 76.2% on placebo).ConclusionsLipoprotein apheresis was discontinued in 63.4% of patients on alirocumab who were previously undergoing regular apheresis, and the rate was at least halved in 92.7% of patients. Alirocumab was generally safe and well tolerated.

Project description:ObjectivesIndividuals with heterozygous familial hypercholesterolaemia (FH) are at high risk of developing cardiovascular disease (CVD). This risk can be substantially reduced with lifelong pharmacological and lifestyle treatment; however, research suggests adherence is poor. We synthesised the qualitative research to identify enablers and barriers to treatment adherence.DesignThis study conducted a thematic synthesis of qualitative studies.Data sourcesMEDLINE, Embase, PsycINFO via OVID, Cochrane library and CINAHL databases and grey literature sources were searched through September 2018.Eligibility criteriaWe included studies conducted in individuals with FH, and their family members, which reported primary qualitative data regarding their experiences of and beliefs about their condition and its treatment.Data extraction and synthesisQuality assessment was undertaken using the Critical Appraisal Skills Programme for qualitative studies. A thematic synthesis was conducted to uncover descriptive and generate analytical themes. These findings were then used to identify enablers and barriers to treatment adherence for application in clinical practice.Results24 papers reporting the findings of 15 population samples (264 individuals with FH and 13 of their family members) across 8 countries were included. Data captured within 20 descriptive themes were considered in relation to treatment adherence and 6 analytical themes were generated: risk assessment; perceived personal control of health; disease identity; family influence; informed decision-making; and incorporating treatment into daily life. These findings were used to identify seven enablers (eg, 'commencement of treatment from a young age') and six barriers (eg, 'incorrect and/or inadequate knowledge of treatment advice') to treatment adherence. There were insufficient data to explore if the findings differed between adults and children.ConclusionsThe findings reveal several enablers and barriers to treatment adherence in individuals with FH. These could be used in clinical practice to facilitate optimal adherence to lifelong treatment thereby minimising the risk of CVD in this vulnerable population.Prospero registration numberCRD42018085946.

Dataset Information

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.

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Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.

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