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The frequency of familial hypercholesterolemia amongst patients in the outpatient clinic of the tertiary specialized cardiology center in Kyrgyzstan 家族性高胆固醇血症在吉尔吉斯斯坦三级专科心脏病中心门诊患者中的发病率
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.001
O.S. Lunegova , A.E. Mirrakhimov , E. Hodzhiboboev , E.E. Bektasheva , K.V. Neronova , U.M. Toktomamatov , U. Zakirov , A. Asanbaev , R.A. Arapova , S.S. Abilova , A.S. Kerimkulova , E.M. Mirrakhimov
{"title":"The frequency of familial hypercholesterolemia amongst patients in the outpatient clinic of the tertiary specialized cardiology center in Kyrgyzstan","authors":"O.S. Lunegova ,&nbsp;A.E. Mirrakhimov ,&nbsp;E. Hodzhiboboev ,&nbsp;E.E. Bektasheva ,&nbsp;K.V. Neronova ,&nbsp;U.M. Toktomamatov ,&nbsp;U. Zakirov ,&nbsp;A. Asanbaev ,&nbsp;R.A. Arapova ,&nbsp;S.S. Abilova ,&nbsp;A.S. Kerimkulova ,&nbsp;E.M. Mirrakhimov","doi":"10.1016/j.atherosclerosissup.2019.01.001","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.001","url":null,"abstract":"<div><h3>Background</h3><p>Familial hypercholesterolemia (FH) is frequently underdiagnosed. Prevalence of the FH in Kyrgyzstan is unknown.</p></div><div><h3>Aim</h3><p>to investigate the prevalence of FH amongst patients in the outpatient settings of the tertiary cardiologic center in Kyrgyzstan.</p></div><div><h3>Methods</h3><p><span><span>Retrospective observational study was conducted using the database of the laboratory of biochemistry and electronic database of outpatient department of the National Center of Cardiology and internal diseases. Patient with the level of total cholesterol (TC) ≥7,5 mmol/l and/or </span>low density lipoprotein cholesterol (LDL-C) ≥ 4,9 mmol/l without signs of secondary </span>hyperlipidemia were included in the analysis. FH was defined using Dutch Lipid Clinic Network criteria.</p></div><div><h3>Results</h3><p>according to the laboratory database levels of TC and LDL-C was conducted in 8281patiens and 525 of them had a high lipid levels. After exclusion of patients with secondary hyperlipidemia, high level of triglycerides and pregnant women – 91 patients were included in the analysis. Among them the definite FH was revealed in 2 (2,2%) patients, probable FH - in 6 (6,6%), and possible in 76 (83,5%), and in 7,7% there were no signs of FH.</p></div><div><h3>Conclusion</h3><p>Frequency of potential FH (definite and probable) in our analysis was low. To understand the real prevalence of FH in a Kyrgyz population epidemiological study is needed.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the association between familial hypercholesterolemia and perceived depression 调查家族性高胆固醇血症与抑郁症之间的关系
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.007
Nien-Tzu Chang , Ta-Chen Su
{"title":"Investigating the association between familial hypercholesterolemia and perceived depression","authors":"Nien-Tzu Chang ,&nbsp;Ta-Chen Su","doi":"10.1016/j.atherosclerosissup.2019.01.007","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.007","url":null,"abstract":"<div><h3>Background and aims</h3><p>Inherited familial hypercholesterolemia (FH) increases cardiovascular risks, but perceived depression in FH is unknown. This study aims to explore the association between the FH and perceived depression.</p></div><div><h3>Methods</h3><p>This study was a hospital-based design, we started to recruit clinical diagnosis of phenotypic FH since 2014 for the Ten Countries Study in the Asia-Pacific region. We consecutively recruited 302 FH patients and other 414 comparison subjects (214 subjects with hypertriglyceridemia<span> and 200 subjects with normal lipid controls) from the special lipid clinic of National Taiwan University Hospital, Taipei. All participants received cardiovascular health examinations and completed a self-reported questionnaire, including the Center for Epidemiologic Studies Depression Scale (CES-D) for assessment of the psychosocial depression.</span></p></div><div><h3>Results</h3><p>Clinical FH patients had a higher risk of perceived depression, with an odds ratio (95% confidence intervals) of possible depression by 1.50 (1.07–2.11) and probable depression by 1.73 (1.10–2.75) than those of the non-FH groups after adjusted relevant cardiovascular risk factors. FH patients with a family history of coronary heart disease (CHD) had higher domain-specific depression scores than those of controls. In addition, this study found that FH patients with lower educational levels also had a higher risk of depression compared with those in control groups.</p></div><div><h3>Conclusions</h3><p>Patients with clinical phenotype of FH are associated with subjectively perceived depression, particularly among FH patients with a family history of CHD.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype 轻度表型的葡萄牙家族性高胆固醇血症的可变表达和外显率
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.006
I.M. Gaspar , A. Gaspar
{"title":"Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype","authors":"I.M. Gaspar ,&nbsp;A. Gaspar","doi":"10.1016/j.atherosclerosissup.2019.01.006","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.006","url":null,"abstract":"<div><p>Familial hypercholesterolemia<span> is an Mendelian dominant disorder characterized by defects of the low density lipoprotein receptor (LDLR) that result in a defective removal of LDL from plasma, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and arteries (atherosclerosis).</span></p><p><span><span>Diagnosis severe clinical phenotype FH with Dutch Lipid Clinic Network Criteria, encompassing history of premature ASCVD, tendon xanthomas, and a family history of </span>hypercholesterolemia and premature ASCVD in relatives is rare in the Portuguese FH patients. There is a variability of the phenotype in FH individuals with clinical diagnosis or genetic mutation (carriers and patients) probably due to </span>environmental factors<span> in the last century, a Mediterranean diet, or a diet without fat food, trans fat food, no smoking, no sedentary life that can interfere with our metabolism, or are consequences of polygenic, epigenetic<span>, acquired defects, modifiers genes<span> and beta-globin asymptomatic carriers.</span></span></span></p><p>We have several concepts/mechanisms in genetics that are transversal to hereditary diseases and common in FH, such as somatic mosaicism, germinal mosaicism, variable expression and variable penetrance of mutations.</p><p>A negative blood genetic test result does not exclude FH, because the pathogenic LDLR mutation can be expressed only in the liver (a mutation in somatic tissue) or occasionally there is a vertical transmission from partner to future child by a mutation on germinal line - germinal mosaicism.</p><p>Unlike north European countries, the most FH carriers and patients had less severe phenotypes, for example with have children and young adult carriers with LDL-R mutation had normal TC and LDL-C, old women had a milder phenotype without ASCVD events, tendon xanthomas are seen in &lt;1% patients, and most homozygous FH patients are under combined therapy.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Achilles tendon ultrasonography – A useful screening tool for cardiovascular risk estimation in patients with severe hypercholesterolemia 跟腱超声检查-严重高胆固醇血症患者心血管风险评估的有用筛查工具
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.002
Sandra Kutkienė , Žaneta Petrulionienė , Aleksandras Laucevičius , Rimantė Čerkauskienė , Artūras Samuilis , Virginija Augaitienė , Aurelija Gedminaitė , Gintarė Bieliauskienė , Akvilė Šaulytė-Mikulskienė , Justina Staigytė , Emilija Petrulionytė , Urtė Gargalskaitė , Eglė Skiauterytė , Gabija Matuzevičienė , Milda Kovaitė , Irena Nedzelskienė
{"title":"Achilles tendon ultrasonography – A useful screening tool for cardiovascular risk estimation in patients with severe hypercholesterolemia","authors":"Sandra Kutkienė ,&nbsp;Žaneta Petrulionienė ,&nbsp;Aleksandras Laucevičius ,&nbsp;Rimantė Čerkauskienė ,&nbsp;Artūras Samuilis ,&nbsp;Virginija Augaitienė ,&nbsp;Aurelija Gedminaitė ,&nbsp;Gintarė Bieliauskienė ,&nbsp;Akvilė Šaulytė-Mikulskienė ,&nbsp;Justina Staigytė ,&nbsp;Emilija Petrulionytė ,&nbsp;Urtė Gargalskaitė ,&nbsp;Eglė Skiauterytė ,&nbsp;Gabija Matuzevičienė ,&nbsp;Milda Kovaitė ,&nbsp;Irena Nedzelskienė","doi":"10.1016/j.atherosclerosissup.2019.01.002","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.002","url":null,"abstract":"<div><h3>Background and aims</h3><p>Achilles tendon<span><span> lesions have long been associated with genetic defects in lipid metabolism<span> and increased risk of cardiovascular diseases (CVD). With this study we aimed to evaluate the usefulness of Achilles tendon ultrasonography in identifying people at greater risk among subjects with severe </span></span>hypercholesterolemia (SH) in a high-risk population.</span></p></div><div><h3>Methods</h3><p>During the period of 2016–2017 a total of 213 participants were enrolled in this case-control study. Data of 110 patients with SH and 103 age and sex matched controls without dyslipidaeplemia and established CVD was collected.</p></div><div><h3>Results</h3><p><span>Achilles tendinopathy (AT) was present in 42.7% of subjects with SH and in 29.1% of controls (p = 0.039). Stronger association between SH and AT was seen in women – 24.1% vs 2.0% (p = 0.001). SH increased odds of AT by 1.815 (95% CI, 1.028–3.206). Prevalence of AT was higher in males despite presence (SH</span><sup>+</sup>) or absence (SH<sup>−</sup>) of severe hypercholesterolemia (SH<sup>+</sup> 60.7% vs 24.1%, SH<sup>−</sup><span> 55.8% vs 2.0%, p &lt; 0.001). AT was associated with higher proportion of subjects exceeding normal mean values of TC (80.5% vs 52.9%, p = 0.001), LDL-C (76.6% vs 52.2%), TG (54.5% vs. 22.1%), ApoB (57.1% vs 22.2%), ApoE (44.0% vs 22.4%) levels and ApoB/ApoA ratio (46.1% vs 21.5%) (p = 0.001) and family history of premature coronary heart disease (CHD).</span></p></div><div><h3>Conclusions</h3><p>AT is more prevalent among subjects with SH and is associated with higher levels of TC, TG, LDL-C, ApoB, ApoE, ApoB/ApoA ratio, family history of premature CHD. SH increases the odds of developing AT.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37059375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Establishing a familial hypercholesterolaemia register - The first year 建立家族性高胆固醇血症登记-第一年
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.005
Myra Tilney
{"title":"Establishing a familial hypercholesterolaemia register - The first year","authors":"Myra Tilney","doi":"10.1016/j.atherosclerosissup.2019.01.005","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.005","url":null,"abstract":"<div><h3>Background and aims</h3><p>Familial hypercholesterolemia<span> (FH) is an autosomal dominant<span> condition raising the risk of premature cardiovascular disease up to twentyfold.[1] [2] It is under-diagnosed and undertreated, in spite of availability of effective treatment. Registers are recommended to assist in the recognition and improvement of the condition since treatment reduces morbidity and mortality. Disease registers enable longitudinal review and the application of continuous quality improvement methodology. The aims of this paper are to describe the process of setting up a new FH register in Malta based on phenotype, the preliminary results achieved, the barriers encountered, how these were overcome, and future plans for development.</span></span></p></div><div><h3>Methods</h3><p>The registry was established as an observational clinical study designed for a small healthcare system with limited resources. Effective process design requires attention to standards, capacity, outcome measurement and feedback, which have been incorporated.</p></div><div><h3>Results</h3><p>43 individuals have been registered applying Dutch Lipid Clinic Network standards, including 9 Definite, 16 Probable and 18 Possible FH. Cascade testing has identified three younger, and one older FH individuals; amenable risk factors and target outcomes are available for feedback and action. Barriers included insufficient infrastructure, limited stakeholder involvement, time limitations impacting clinical care and data collection, poor recognition, awareness and referral, and limited cascade testing. Overcoming these required persistence, reorganizing clinical work, with some assistance from clinic nurses, forward planning to involve patients and raising FH awareness through presentations to various audiences.</p></div><div><h3>Conclusions</h3><p>During this year the register was established and is functional: awareness is being raised. Future steps will target process improvement for effectiveness and sustainability.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Familial hypercholesterolemia in China half a century: A review of published literature 半个世纪以来中国家族性高胆固醇血症的文献综述
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.003
Jie Peng , Xue Wu , Shilong Wang , Shuang Zhang , Xumin Wang , Zesen Liu , Jing Hong , Pucong Ye , Jie Lin
{"title":"Familial hypercholesterolemia in China half a century: A review of published literature","authors":"Jie Peng ,&nbsp;Xue Wu ,&nbsp;Shilong Wang ,&nbsp;Shuang Zhang ,&nbsp;Xumin Wang ,&nbsp;Zesen Liu ,&nbsp;Jing Hong ,&nbsp;Pucong Ye ,&nbsp;Jie Lin","doi":"10.1016/j.atherosclerosissup.2019.01.003","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.003","url":null,"abstract":"<div><h3>Aims</h3><p>To investigate the status of familial hypercholesterolemia (FH) research and the characteristics of patients with FH in China.</p></div><div><h3>Methods</h3><p>Published papers in Chinese or English language from PubMed, SinoMed and CNKI databases from 1971 to March 2018 were searched using ‘Familial hypercholesterolemia’, ‘Chinese’ and ‘Han’ as keywords. A systematic review of studies on familial hypercholesterolemia was then conducted.</p></div><div><h3>Results</h3><p>A total of 391 articles were found, in which 22% were in English and 78% were in Chinese; approximately 43% are case reports and 34% are genetic reports according to the study type; 52% discussed the status of the disease and 11% investigated the subclinical status according to the study content. Furthermore, 96% of the articles were published by tertiary hospitals and 46% were conducted by cardiologists. The first expert consensus was issued in February 2018. Of the 163 case reports published before 2018, 48.7% used the Chinese FH clinical diagnostic criteria and 34.4% did not clearly indicate the diagnostic criteria. The incidence rates of low-density lipoprotein receptor (<em>LDLR</em><span>) and apolipoprotein B (</span><em>APOB</em>) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (<em>PCSK9</em><span>) mutations were rare in Chinese patients with FH. However, the data on lipid-lowering treatment rates, compliance rates and cardiovascular events in FH remain insufficient.</span></p></div><div><h3>Conclusions</h3><p>Large-scale epidemiological investigation of FH has not been demonstrated, the recognition of FH remains rudimentary, and the guidelines are incomplete in China. The diagnosis and management of Chinese FH needs to be improved.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Percutaneous coronary intervention for a Chinese familial hypercholesterolemia homozygous under the guidance of optical coherence tomography 光学相干断层扫描引导下的中国家族性高胆固醇血症纯合子经皮冠状动脉介入治疗
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-03-01 DOI: 10.1016/j.atherosclerosissup.2019.01.004
Zesen Liu , Jie Peng , Shilong Wang , Tao Jiang , Weicong Zhang , Chun Zhang , Yan Chen , Kang Meng , Jie Lin
{"title":"Percutaneous coronary intervention for a Chinese familial hypercholesterolemia homozygous under the guidance of optical coherence tomography","authors":"Zesen Liu ,&nbsp;Jie Peng ,&nbsp;Shilong Wang ,&nbsp;Tao Jiang ,&nbsp;Weicong Zhang ,&nbsp;Chun Zhang ,&nbsp;Yan Chen ,&nbsp;Kang Meng ,&nbsp;Jie Lin","doi":"10.1016/j.atherosclerosissup.2019.01.004","DOIUrl":"10.1016/j.atherosclerosissup.2019.01.004","url":null,"abstract":"<div><p><span>Homozygous familial hypercholesterolemia<span> developed into severe cardiovascular consequences early. Untreated HoFH usually cannot survive over 30 years old. Acute coronary syndrome(ACS) caused by plaque rupture is one of the main causes of death in HoFH. As the highest resolution intravascular imaging technique, optical coherence tomography(OCT) can clearly show the thickness and structural characteristics of atherosclerotic plaque caps. In this study, a Chinese male HoFH received percutaneous coronary intervention for </span></span>unstable angina<span><span><span>. After analyzed his genetic and follow-up data, OCT was performed during interventional therapy. Multiple lipid rich plaques accompanied with </span>inflammatory cell infiltration and a thin-cap fibroatheroma(TCFA) were noted, which reflected the vulnerability of plaques. The utility of OCT had certain guiding significance for strategy of interventional therapy and the long-term </span>drug management. And this case suggested that it was important to undergo OCT examination for patients with HoFH who required percutaneous coronary intervention.</span></p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.atherosclerosissup.2019.01.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37060429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Postmortem diagnosis of sitosterolaemia by next-generation sequencing in a patient with severe hypercholesterolaemia and cardiovascular failure 通过新一代测序对严重高胆固醇血症和心血管衰竭患者的死后诊断谷固醇血症
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-01-01 DOI: 10.1016/j.athx.2019.100010
Yun Qiao , Minjie Xu , Zheng Yan , Qiang Liu , Wanjun Chen , Jianfei Xiong , Changqing Zhu , Xiaoye Lu
{"title":"Postmortem diagnosis of sitosterolaemia by next-generation sequencing in a patient with severe hypercholesterolaemia and cardiovascular failure","authors":"Yun Qiao ,&nbsp;Minjie Xu ,&nbsp;Zheng Yan ,&nbsp;Qiang Liu ,&nbsp;Wanjun Chen ,&nbsp;Jianfei Xiong ,&nbsp;Changqing Zhu ,&nbsp;Xiaoye Lu","doi":"10.1016/j.athx.2019.100010","DOIUrl":"10.1016/j.athx.2019.100010","url":null,"abstract":"<div><h3>Background and aims</h3><p>Sitosterolaemia (STSL; OMIN #210250) is a disorder of lipid metabolism and a rare autosomal recessive condition caused by loss-of-function biallelic mutations in the adenosine triphosphate-binding cassette, subfamily G member 5 (<em>ABCG5</em>) gene (NM_022,436.2) or in the adjacent <em>ABCG8</em> gene (NM_022,437.2). STSL patients often have high plasma total sterols and present a heterogeneous phenotype. Here, we describe a male patient with a post-mortem diagnosis of STSL who was admitted to the emergency department with advanced heart failure, tendon xanthomas and findings from the follow up with his living family members.</p></div><div><h3>Methods</h3><p>We established a family pedigree and performed whole-exome next-generation sequencing for the patient and Sanger sequencing of DNA samples obtained from his living family members. Plasma sterol (β-sitosterol) level was measured by gas chromatography/mass spectrometry.</p></div><div><h3>Results</h3><p>Both the patient and his younger brother carried a homozygous mutation of p. R263Q (c.788G &gt; A) in the <em>ABCG8</em> gene. The patient's plasma plant sterol level was extremely high (β-sitosterol: 107.5 μg/ml), and the plasma β-sitosterol level of his younger brother without tendon xanthomas was also abnormally high (51.5 μg/ml). The β-sitoserol levels of other living family members including ones with a heterozygous mutation of p. R263Q (c.788G &gt; A) were normal (i.e. undetectable). Based on the results of genetic detection and very high plasma level of β-sitosterol, we made a definitive diagnosis of STSL.</p></div><div><h3>Conclusions</h3><p>Emergency physicians should be aware of the need to further investigate individuals with xanthomas and cardiovascular disease using biochemical and genetic analyses to aid in diagnosis and intervention.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.athx.2019.100010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42684773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atherogenic markers in predicting cardiovascular risk and targeting residual cardiovascular risk 动脉粥样硬化标志物在预测心血管风险和靶向剩余心血管风险中的应用
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-01-01 DOI: 10.1016/j.athx.2019.100001
Alberico L. Catapano , Lale Tokgözoğlu , Alberto Mello e Silva , Eric Bruckert
{"title":"Atherogenic markers in predicting cardiovascular risk and targeting residual cardiovascular risk","authors":"Alberico L. Catapano ,&nbsp;Lale Tokgözoğlu ,&nbsp;Alberto Mello e Silva ,&nbsp;Eric Bruckert","doi":"10.1016/j.athx.2019.100001","DOIUrl":"10.1016/j.athx.2019.100001","url":null,"abstract":"<div><p>Low-density lipoprotein (LDL) cholesterol (LDL-C) is the primary target in cardiovascular (CV) disease prevention and is commonly used in estimating CV risk; however, alternative markers may be needed when LDL-C is not an appropriate marker (e.g. in the presence of low LDL-C levels or elevated triglyceride [TG] levels). Non-high-density lipoprotein cholesterol (non-HDL-C) and apolipoprotein B (apoB) are markers of atherogenic lipoproteins with evidenced associations with CV risk and are, therefore, recommended as secondary targets, appropriate for use in the presence of elevated TG levels. The reported strength of the associations of non-HDL-C and apoB in comparison to LDL-C is conflicting between studies, potentially due to discordance of the markers which can alter their predictive pattern.</p><p>Although LDL-C levels are commonly managed with statin treatment, a residual risk of CV events still remains, and an abnormal lipid profile can persist. Combination therapy to further reduce LDL-C levels can be beneficial; a statin therapy combined with other LDL-C-lowering therapy further reduced the number of CV events. In addition, targeting other markers, including non-HDL-C, apoB, total cholesterol and TGs may also be beneficial, specifically in patients with low HDL-C and elevated TG levels. More clinical evidence is required before definitive recommendations can be made; however, a statin–fenofibrate combination demonstrated favourable reductions in major CV events in these specific patients.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.athx.2019.100001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41521538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Lifestyle interventions and nutraceuticals: Guideline-based approach to cardiovascular disease prevention 生活方式干预和营养品:基于指南的心血管疾病预防方法
4区 医学
Atherosclerosis. Supplements Pub Date : 2019-01-01 DOI: 10.1016/j.athx.2019.100003
Alberico L. Catapano , Vivencio Barrios , Arrigo F.G. Cicero , Matteo Pirro
{"title":"Lifestyle interventions and nutraceuticals: Guideline-based approach to cardiovascular disease prevention","authors":"Alberico L. Catapano ,&nbsp;Vivencio Barrios ,&nbsp;Arrigo F.G. Cicero ,&nbsp;Matteo Pirro","doi":"10.1016/j.athx.2019.100003","DOIUrl":"10.1016/j.athx.2019.100003","url":null,"abstract":"<div><p>Lowering low-density lipoprotein cholesterol (LDL-C) levels is associated with a well-documented reduction in cardiovascular (CV) disease (CVD) risk. Current guidelines and literature support lifestyle interventions as the primary strategy for reducing CV risk. Association of dietary modifications (such as the Mediterranean diet), physical activity and the cessation of smoking with reduced CV morbidity and mortality has been evidenced. Where lifestyle interventions are not adequate for lowering LDL-C levels and CV risk, pharmacological therapies, most commonly statins, may also be considered. The benefits of lifestyle and pharmacological interventions in the prevention of CVD are widely known, but poor adherence and persistence to these necessitate an approach that aims to improve LDL-C lowering for CVD prevention.</p><p>Nutraceuticals (targeted functional foods or dietary supplements of plant or microbial origin) are included in EU guidelines as lifestyle interventions and may provide an additional approach to controlling LDL-C levels when a pharmaceutical intervention is not (yet) indicated. However, among different nutraceuticals, the level of clinical evidence supportive of efficacy for lipid lowering needs to be considered. Meta-analyses of randomised clinical trials have demonstrated that some nutraceuticals (e.g. red yeast rice and berberine) and some nutraceutical combinations improve lipid profiles, including lowering of LDL-C, total cholesterol and triglyceride levels. Therefore, nutraceuticals may be considered in specific patient groups where there is appropriate evidence to support the efficacy and safety.</p></div>","PeriodicalId":8592,"journal":{"name":"Atherosclerosis. Supplements","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.athx.2019.100003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42495243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
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