Journal ArticleDOI
Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland
Agnieszka Mickiewicz,Magdalena Chmara,Marta Futema,Marcin Fijałkowski,Krzysztof Chlebus,Rafal Galaska,Tomasz Bandurski,Marcin Pajkowski,M. Zuk,Bartosz Wasag,Janusz Limon,Andrzej Rynkiewicz,Marcin Gruchała +12 more
TLDR
The study validated the efficacy of proposed clinical FH criteria for the disease diagnosis in Poland and proposed that in the healthcare systems with limited genetic testing resources individuals younger than 40 years, who fulfill the clinical criteria for possible, probable or definite FH should qualify for the FH mutation testing.About:
This article is published in Atherosclerosis.The article was published on 2016-06-01. It has received 21 citations till now. The article focuses on the topics: Familial hypercholesterolemia & Population.read more
Citations
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Journal ArticleDOI
Cascade screening for familial hypercholesterolemia: Practical consequences
TL;DR: The practical consequences of implementing and executing a cascade screening program with a special focus on the lessons learned in the Netherlands are highlighted.
Journal ArticleDOI
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
TL;DR: Up to date evidence on the pathogenicity of low-density lipoprotein receptor (LDLR) variants is presented and a strategy that is suitable for implementation in the clinical work-up of familial hypercholesterolaemia is proposed.
Journal ArticleDOI
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease
Ye-Xuan Cao,Na-Qiong Wu,Di Sun,Hui-Hui Liu,Jing-Lu Jin,Sha Li,Yuan-Lin Guo,Cheng-Gang Zhu,Ying Gao,Qiu-Ting Dong,Geng Liu,Qian Dong,Jian-Jun Li +12 more
TL;DR: FH is really a common cause for very young CAD patients (≤ 35 years) with a 38.1% of causative mutations in China and best LDL-C threshold for predicting mutations was 4.56 mmol/L in the present study.
Journal ArticleDOI
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
Jesús M. Martín-Campos,Núria Plana,Rosaura Figueras,Daiana Ibarretxe,Assumpta Caixàs,Eduardo Esteve,Antonio Pérez,Marta Bueno,Marta Mauri,Rosa Roig,Susana Martínez,Xavier Pintó,Luis Masana,Josep Julve,Francisco Blanco-Vaca,Xarxa d’Unitats de Lípids i Arteriosclerosi +15 more
TL;DR: The DLCN showed a relatively low capacity to predict mutation detection but a higher one for ruling out mutation, and the SBRG were similarly useful for predicting the presence of mutation.
Journal ArticleDOI
Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan
TL;DR: In this paper , a study aimed to assess the genetic identification of FH in children with high LDL-C levels who are identified in a universal pediatric FH screening in Kagawa, Japan.
References
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Journal ArticleDOI
Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach.
TL;DR: A nonparametric approach to the analysis of areas under correlated ROC curves is presented, by using the theory on generalized U-statistics to generate an estimated covariance matrix.
Journal ArticleDOI
Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials.
Colin Baigent,L Blackwell,Jonathan Emberson,Lisa Holland,Christina Reith,Neeraj Bhala,Richard Peto,Elizabeth H Barnes,Anthony C Keech,John Simes,Rory Collins +10 more
TL;DR: Further reductions in LDL cholesterol safely produce definite further reductions in the incidence of heart attack, of revascularisation, and of ischaemic stroke, with each 1·0 mmol/L reduction reducing the annual rate of these major vascular events by just over a fifth.
Journal ArticleDOI
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society
Børge G. Nordestgaard,M. John Chapman,Steve E. Humphries,Henry N. Ginsberg,Luis Masana,Olivier S. Descamps,Olov Wiklund,Robert A. Hegele,Frederick J. Raal,Joep C. Defesche,Albert Wiegman,Raul D. Santos,Gerald F. Watts,Klaus G. Parhofer,G. Kees Hovingh,Petri T. Kovanen,Catherine Boileau,Maurizio Averna,Jan Borén,Eric Bruckert,Alberico L. Catapano,Jan Albert Kuivenhoven,Jan Albert Kuivenhoven,P. Pajukanta,Kausik K. Ray,Anton F. H. Stalenhoef,Erik S.G. Stroes,Marja-Riitta Taskinen,Anne Tybjærg-Hansen +28 more
TL;DR: There is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition, familial hypercholesterolaemia.
Journal ArticleDOI
Risks of ischæmic heart-disease in familial hyperlipoproteinæmic states
TL;DR: The life experience of 104 patients with Fredrickson's type-II hyperbetalipo-proteinaemia has been compared with 41 patients with hyperlipoproteinaemia associated with hypertriglyceridaemia and the risks were lower but the risk of peripheral vascular disease was increased.
Journal ArticleDOI
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
Roger R. Williams,Roger R. Williams,Roger R. Williams,Steven C. Hunt,Steven C. Hunt,Steven C. Hunt,M.Catherine Schumacher,M.Catherine Schumacher,M.Catherine Schumacher,Robert A. Hegele,Robert A. Hegele,Robert A. Hegele,Mark Leppert,Mark Leppert,Mark Leppert,Erwin H. Ludwig,Erwin H. Ludwig,Erwin H. Ludwig,Paul N. Hopkins,Paul N. Hopkins,Paul N. Hopkins +20 more
TL;DR: Detailed tables were derived to provide practical total and low-density lipoprotein blood cholesterol screening criteria for diagnosing FH in different screening settings and specific age groups.
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