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Using cardiovascular and imaging biomarkers to identify patients with familial hypercholesterolaemia 利用心血管和成像生物标记物识别家族性高胆固醇血症患者
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.002
Wiaam Al Hasani , Christopher N. , Cheryl Walsh , Rachel Mein , Soundrie T. Padayachee , Zofia McMahon , Radha Ramachandran , Martin A. Crook , Anthony S. Wierzbicki
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引用次数: 0
Update on the United Kingdom Paediatric FH Register: Working towards new evidence on when children with Familial Hypercholesterolaemia should start lipid lowering therapies 英国儿科家族性高血压登记册的最新情况:努力为家族性高胆固醇血症儿童何时开始降脂治疗提供新证据
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.010
L.J. Tata ∗ , L. Priestley-Barnham , U. Ramaswami , S.E. Humphries , M. Bains , Y. Vinogradova , R.K. Akyea , J. Kai , A. Llewellyn , B. Woods , M. Fisher , M. Gomez , N. Qureshi
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引用次数: 0
Ketogenic Diet – a culinary delight but is there a cautionary tale? 生酮饮食--美味佳肴,但是否有警示意义?
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.011
R. Valaiyapathi ∗ , N. Rao , R. Chandra , R.P. Vincent , R. Ranasinghe
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引用次数: 0
A tale of 2 pregnancies: the biochemical trends, medical management, and outcomes of hypertriglyceridemia in pregnancy secondary to multi-factorial chylomicronaemia syndrome (MCS) and extreme ketogenic/carnivorous diet 两次妊娠的故事:继发于多因素乳糜泻综合征(MCS)和极端生酮/肉食饮食的妊娠高甘油三酯血症的生化趋势、医疗管理和结果
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.003
N.W.P. Cantley ∗ , S. Tapley , K. Antwi , P. Downie , E. Willis
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引用次数: 0
Variants in LPA are associated with mutation-negative Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project LPA变异与突变阴性家族性高胆固醇血症有关:十万基因组计划的全基因组测序分析
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.015
Martin Bird , Antoine Rimbert , Alan M. Pittman , Steve E. Humphries , Marta Futema ∗
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引用次数: 0
Genetic Landscape of Familial Chylomicronaemia Syndrome (FCS) and Multifactorial Chylomicronaemia Syndrome (MCS) in United Kingdom 英国家族性乳糜微粒血症综合征(FCS)和多因素乳糜微粒血症综合征(MCS)的遗传情况
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.013
Bilal Bashir , Natalie Forrester , Paul Downie , Carolyn Dent , Dawn O’Sullivan , Sarah Marsh , Raabya Pasha , Anoushka Kamath , Haya Haso , Maryam Ferdousi , Jian Wang , Robert Hegele , Handrean Soran
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引用次数: 0
Lomitapide in paediatric patients with homozygous familial hypercholesterolaemia (HoFH) – Analysis of patient-level LDL-C reduction, fat-soluble vitamins, lipoproteins and patient maturation from the APH-19 study 洛美他匹在同型家族性高胆固醇血症(HoFH)儿科患者中的应用--APH-19 研究对患者低密度脂蛋白胆固醇(LDL-C)降低、脂溶性维生素、脂蛋白和患者成熟度的分析
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-09-01 DOI: 10.1016/j.athplu.2024.08.020
Luis Masana , Alberto Zambon , Claus Peter Schmitt , Christina Taylan , Joenna Driemeyer , Hofit Cohen , Paola Sabrina Buonuomo , Abdullah Alashwal , Mohammed Al-Dubayee , José Luis Diaz-Diaz , Faouzi Maatouk , Sergio Martinez-Hervas , Brian Mangal , Naji Kholaif , Sandra Löwe , Zsuzsanna Tamas ∗
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引用次数: 0
Extreme founder effect associated with hyperglycemia and hyperlipidemia on the island of NIAS/Indonesia 印度尼西亚尼亚斯岛上与高血糖和高脂血症有关的极端奠基效应
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-07-23 DOI: 10.1016/j.athplu.2024.07.002
Ingo Kennerknecht , Johannes M. Hämmerle , Manfred Fobker , Jerzy-Roch Nofer

The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. As a consequence, the prevalence of some disease genes should significantly differ among populations depending on the gene pool passed on to the founder population and their successive expansion as it has already been documented for several monogenic diseases. Results of the current study based on routine laboratory blood examination give rise to the notion that this might also hold true for polygenic disorders. We observed very high prevalence of hyperglycemia (non-fasting glucose above 200 mg/dL in 14 % Nias population compared to 1.5 % in the population of the neighboring island of Sumatra) accompanied by hypertriglyceridemia, high non-HDL-cholesterol, and low HDL-cholesterol levels. These findings suggest that the Nias population may be disproportionally affected by prediabetes and type 2 diabetes mellitus. By contrast, laboratory parameters potentially indicative of other polygenic disorders such as total plasma cholesterol, electrolytes, creatinine, urea, and uric acid were comparable between the inhabitants of Nias and Sumatra islands. To our knowledge this is the first study suggesting that the extremely strong genetic bottleneck seen in the Nias population translates into the widespread metabolic disease with potentially deleterious influence on public health.

尼亚斯岛/印度尼西亚的遗传多样性极度减少,这表明有很强的始祖效应。因此,某些疾病基因的流行率在不同人群中会有很大差异,这取决于创始人群所传承的基因库及其连续扩展,这在几种单基因疾病中已有记录。本研究基于常规实验室血液检查的结果让人联想到多基因疾病也可能存在这种情况。我们观察到高血糖的发病率非常高(尼亚斯 14% 的人口空腹血糖超过 200 毫克/分升,而邻近的苏门答腊岛只有 1.5% 的人口空腹血糖超过 200 毫克/分升),同时还伴有高甘油三酯血症、高非高密度脂蛋白胆固醇和低高密度脂蛋白胆固醇水平。这些研究结果表明,尼亚斯岛人口中糖尿病前期和 2 型糖尿病患者的比例可能过高。相比之下,尼亚斯岛和苏门答腊岛居民的血浆总胆固醇、电解质、肌酐、尿素和尿酸等可能表明其他多基因疾病的实验室参数却相当。据我们所知,这是首次有研究表明,在尼亚斯岛人口中出现的极强的遗传瓶颈转化成了普遍的代谢性疾病,对公众健康具有潜在的有害影响。
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引用次数: 0
Associations of very low Lipoprotein(a) levels with risks of new-onset diabetes and non-alcoholic liver disease 极低脂蛋白(a)水平与新发糖尿病和非酒精性肝病风险的关系
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-07-11 DOI: 10.1016/j.athplu.2024.07.001
Ming Wai Yeung , M. Abdullah Said , Yordi J. van de Vegte , Niek Verweij , Robin P.F. Dullaart , Pim van der Harst

Background and aims

We aimed to study the association of very low serum Lipoprotein(a) [Lp(a)] concentrations with new-onset type 2 diabetes (T2D) and non-alcoholic liver disease (NAFLD) in the context of statin usage in the UK Biobank, a large prospective population cohort.

Methods

Using an extended biomarker dataset, we identified 47,362 participants with very low Lp(a) concentrations (<3.8 nmol/L) from a total of 451,479 participants. With a median follow-up of 12.3 years, we assessed the risk of new-onset cardiometabolic diseases in participants stratified by statin usage with Cox proportional hazards models. We performed two-sample Mendelian randomization MR analyses to test causal relationship between genetically predicted Lp(a) and T2D and NAFLD.

Results

Taking the participants with Lp(a) within reportable range as the reference group, the hazard ratios (HR) for T2D were 1.07 (95 % confidence interval, CI 1.01–1.13) and for NAFLD 1.30 (95 % CI 1.20–1.41) respectively for participants with very low Lp(a) (<3.8 nmol/L). The risk for new-onset T2D was higher in participants using statins (adjusted HR 1.15; 95 % CI 1.05–1.27). The risk estimates for new-onset NAFLD were comparable in the analysis stratified by statin use. There was no evidence for causal links between genetically predicted Lp(a) and T2D nor NAFLD in two-sample MR analyses.

Conclusions

Very low Lp(a) was associated with higher risks of T2D and NAFLD in a prospective analysis of the UK Biobank. The association with T2D was influenced by lipid lowering medication usage. MR analyses did not support causality for these inverse associations.

背景和目的我们的目的是在英国生物库这一大型前瞻性人群队列中研究血清脂蛋白(a)[Lp(a)]浓度极低与他汀类药物使用情况下新发 2 型糖尿病(T2D)和非酒精性肝病(NAFLD)的关系。方法我们利用扩展的生物标志物数据集,从总共 451,479 名参与者中识别出了 47,362 名脂蛋白(a)浓度极低(3.8 nmol/L)的参与者。中位随访时间为 12.3 年,我们采用 Cox 比例危险模型评估了按他汀类药物使用情况分层的参与者中新发心脏代谢疾病的风险。结果以脂蛋白(a)在可报告范围内的参与者为参照组,脂蛋白(a)极低(<3.8 nmol/L)的参与者患 T2D 的危险比(HR)为 1.07(95 % 置信区间,CI 1.01-1.13),患非酒精性脂肪肝的危险比(HR)为 1.30(95 % 置信区间,CI 1.20-1.41)。使用他汀类药物的参与者新发 T2D 的风险更高(调整后 HR 1.15;95 % CI 1.05-1.27)。在按他汀类药物使用情况进行的分层分析中,新发非酒精性脂肪肝的风险估计值相当。结论在英国生物库的前瞻性分析中,超低脂蛋白(a)与较高的T2D和NAFLD风险相关。与 T2D 的关系受降脂药物使用情况的影响。磁共振分析不支持这些反向关联的因果关系。
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引用次数: 0
Lipoprotein(a) in children and adolescents with genetically confirmed familial hypercholesterolemia followed up at a specialized lipid clinic 血脂专科门诊随访的经基因证实的家族性高胆固醇血症儿童和青少年的脂蛋白(a)
IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Pub Date : 2024-06-20 DOI: 10.1016/j.athplu.2024.06.002
Anja K. Johansen , Martin P. Bogsrud , Magne Thoresen , Jacob J. Christensen , Ingunn Narverud , Gisle Langslet , Tone Svilaas , Kjetil Retterstøl , Kirsten B. Holven

Background and aim

Many children with an FH mutation also exhibit elevated lipoprotein(a) levels, which is an independent risk factor for atherosclerotic cardiovascular disease. Studies have reported higher levels of lipoprotein(a) in adult and middle-aged women than men. There is limited knowledge on the concentration and change of lipoprotein(a) levels in children with genetic FH, and therefore we investigated sex-differences in lipoprotein(a) level and change in lipoprotein(a) in girls and boys with genetically confirmed FH.

Methods

Medical records were reviewed retrospectively in 438 subjects with heterozygous FH that started follow-up below the age of 19 years at the Lipid Clinic, Oslo University Hospital in Norway, and of these we included 386 subjects with at least one Lp(a) measurement.

Results

Mean (SD) age at baseline was 13.8 (7.3) years and the age was similar between sexes. Girls had a higher lipoprotein(a) level than boys at baseline: median (25–75 percentile) 223 (108–487) vs. 154 (78–360) mg/L, respectively (p < 0.01). From baseline to follow-up measurement (mean [SD] 8.9 [6.1] years apart), the mean (95 % CI) absolute and percentage change in Lp(a) level in girls was 151.4 (54.9–247.8) mg/L and 44.8 (16.4–73.1) %, respectively, and in boys it was 66.8 (22.9–110.8) mg/L and 50.5 (8.8–92.3) %, respectively (both p > 0.05).

Conclusions

We found an increase in Lp(a) levels in children with genetic FH with age, and higher levels in girls than boys, which could impact risk assessment and future ASCVD. Further research is needed to elucidate whether subjects with FH could benefit from lipoprotein(a)-lowering therapies that are under current investigations.

背景和目的许多有 FH 基因突变的儿童也表现出脂蛋白(a)水平升高,而脂蛋白(a)是动脉粥样硬化性心血管疾病的独立危险因素。研究报告显示,成年和中年女性的脂蛋白(a)水平高于男性。因此,我们研究了经遗传证实患有 FH 的女孩和男孩的脂蛋白(a)水平和脂蛋白(a)变化的性别差异。结果 基线时的平均(标清)年龄为13.8(7.3)岁,男女之间的年龄相似。基线时,女孩的脂蛋白(a)水平高于男孩:中位数(25-75 百分位数)分别为 223(108-487)毫克/升和 154(78-360)毫克/升(p <0.01)。从基线到随访测量(平均 [SD] 相隔 8.9 [6.1] 年),女孩脂蛋白(a)水平的绝对值和百分比变化的平均值(95 % CI)分别为 151.4 (54.9-247.8) mg/L 和 44.8 (16.4-73.1) %,男孩则为 66.8 (22. 9-110.8) mg/L。结论我们发现,遗传性 FH 儿童的脂蛋白(a)水平会随着年龄的增长而增加,而且女孩的脂蛋白(a)水平高于男孩,这可能会影响风险评估和未来的 ASCVD。还需要进一步研究,以阐明FH患者是否能从目前正在研究的降低脂蛋白(a)疗法中获益。
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Atherosclerosis plus
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